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 routinely used peripheral blood cells. The amplification of repeat-containing alleles of FMR-1 by PCR using Pfu polymerase was applied on DNA extracted from urine sediments or hair roots of 50 and 28 normal individuals, respectively. Consistent amplification of repeat-containing DNA fragments of normal size to ethidium-visible quantities were obtained in 92% (46/50) of urine samples and 100% (28/28) of hair roots. No bands of normal size or abnormal or artificial smears were detected in two male FRAXA patients. No female samples were examined in the present study because the separation of two alleles was unsatisfactory on agarose gels with DNA from blood samples. Our results indicate that the use of hair roots in a DNA-based test constitutes a rapid, simple and less-invasive screen to diagnose males with FRAXA.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Suwa K,Momoi MYdoi
10.1016/j.braindev.2003.11.002keywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
380-3issue
6eissn
0387-7604issn
1872-7131pii
S0387760403002079journal_volume
26pub_type
杂志文章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：:An unique cytoplasmic inclusion was found in astrocytes of a 2-month-old female baby who showed Leigh-like brain lesions with lactic acidosis, hypoglycemia and hepatomegaly. Although a defective enzyme was not determined, a metabolic disorder was suggested from clinicopathological observations. Symmetrically distribut...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00117-0
更新日期：2000-06-01 00:00:00
abstract：:Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80008-1
更新日期：1988-01-01 00:00:00
abstract：:A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80083-x
更新日期：1989-01-01 00:00:00
abstract：:Various abnormalities of sleep have been reported in extrapyramidal diseases in adults. We have investigated the disturbances of REM sleep (SREM) in severe athetoid cerebral palsy (ACP) originating perinatally. Ten ACP patients, 5 males and 5 females ranging from 15 to 30 years old, were studied by means of all-night ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80214-2
更新日期：1990-01-01 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：BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.03.001
更新日期：2020-06-01 00:00:00
abstract：:The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80030-9
更新日期：1985-01-01 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：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.10.002
更新日期：2016-04-01 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：:We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9±3.3months, seven boys) were stu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.008
更新日期：2011-05-01 00:00:00
abstract：:Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosino...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.08.004
更新日期：2007-04-01 00:00:00
abstract：:The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.06.008
更新日期：2008-02-01 00:00:00
abstract：:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.013
更新日期：2010-05-01 00:00:00
abstract：:The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80067-2
更新日期：1990-01-01 00:00:00
abstract：:The developmental expression of monocyte chemoattractant protein-1 (MCP-1) in the cerebellum, medulla oblongata and pons was investigated in 26 normal human brains, ranging from 20 weeks of gestation (GW) to adulthood by means of an immunohistochemical method. Immunoreactivity to MCP-1 was observed in neurons of the c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00065-5
更新日期：1999-01-01 00:00:00
abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80097-3
更新日期：1986-01-01 00:00:00
abstract：:We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80010-8
更新日期：1984-01-01 00:00:00
abstract：OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.010
更新日期：2013-04-01 00:00:00
abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.12.004
更新日期：2015-09-01 00:00:00
abstract：:Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.11.007
更新日期：2009-11-01 00:00:00
abstract：:Relative to their numbers, more than twice the number of disabled children fell victim to the Great East Japan Earthquake than did normal people. It was important to find out needs and provide support, as the needs of disabled children vulnerable to the disaster, such as a shortage of diapers of the right size for dis...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2012.09.008
更新日期：2013-03-01 00:00:00
abstract：BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.06.011
更新日期：2015-04-01 00:00:00
abstract：BACKGROUND:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.005
更新日期：2016-08-01 00:00:00
abstract：:A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadrice...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80046-7
更新日期：1984-01-01 00:00:00
abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.10.001
更新日期：2017-03-01 00:00:00
abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.12.004
更新日期：2006-08-01 00:00:00
abstract：:It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive a...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/S0387-7604(03)00170-0
更新日期：2004-08-01 00:00:00
abstract：:Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from ben...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2008.07.011
更新日期：2009-02-01 00:00:00
