Altered brain function in new onset childhood acute lymphoblastic leukemia before chemotherapy: A resting-state fMRI study.

abstract：:Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the freq...

journal_title：Brain & development

authors： Saito Y,Hanaoka S,Fukumizu M,Morita H,Ogawa T,Takahashi K,Ito M,Hashimoto T

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVES:Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clin...

journal_title：Brain & development

authors： Kashimada A,Hasegawa S,Nomura T,Shiraku H,Moriyama K,Suzuki T,Nakajima K,Mizuno T,Imai K,Sugawara Y,Morio T,Kumada S,Takagi M

更新日期：2019-02-01 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

authors： Zhao J,Uchino M,Yoshioka K,Miyatake M,Miike T

更新日期：1991-01-01 00:00:00

abstract：:The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic c...

journal_title：Brain & development

authors： Bermejo AM,Martin VL,Arcas J,Perez-Higueras A,Morales C,Pascual-Castroviejo I

更新日期：1992-11-01 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

authors： Shiihara T,Yoneda T,Mizuta I,Yoshida T,Nakagawa M,Shimizu N

更新日期：2011-08-01 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

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 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

authors： Yamatogi Y,Ohtahara S

更新日期：2002-01-01 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

authors： Sakuta R,Tomita Y,Ohashi M,Nagai T,Murakami N

更新日期：2007-04-01 00:00:00

abstract：:A boy with chronic relapsing dysimmune polyneuropathy was treated with intravenous gammaglobulin injections for the fourth and fifth episodes, and showed rapid clinical improvement compared with in the three previous episodes, when he was treated by high dose steroid administration. ...

journal_title：Brain & development

authors： Taku K,Tamura T,Miike T

更新日期：1990-01-01 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

authors： Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin U

更新日期：2010-05-01 00:00:00

abstract：:The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...

journal_title：Brain & development

authors： Wada N,Yamashita Y,Matsuishi T,Ohtani Y,Kato H

更新日期：2000-09-01 00:00:00

abstract：:We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...

journal_title：Brain & development

authors： Van Erven PM,Colon EJ,Gabreëls FJ,Renier WO,Vingerhoets DM

更新日期：1986-01-01 00:00:00

abstract：:Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...

journal_title：Brain & development

authors： Ono J,Mimaki T,Tagawa T,Tanaka J

更新日期：1988-01-01 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

authors： Stahl D,Parise E,Hoehl S,Striano T

更新日期：2010-04-01 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

authors： Ozand PT,Rashed M,Gascon GG,al Odaib A,Shums A,Nester M,Brismar J

更新日期：1994-11-01 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

authors： Matsuo M,Ohno K,Ohtsuka F

更新日期：2014-02-01 00:00:00

abstract：:The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It ha...

journal_title：Brain & development

authors： Nardello R,Fontana A,Antona V,Beninati A,Mangano GD,Stallone MC,Mangano S

更新日期：2018-01-01 00:00:00

abstract：:Neonatal focal cerebral arterial infarction has been rarely reported in the literature, in contrast to the watershed infarctions, which are common entities among asphyxiated infants. In neonatal postmortem series, thromboembolism was the commonest cause of cerebral arterial occlusion; the source of emboli was associat...

journal_title：Brain & development

authors： Pellicer A,Cabañas F,García-Alix A,Pérez-Higueras A,Quero J

更新日期：1992-11-01 00:00:00

abstract：:We reported a 2-year-old boy with Lennox-Gastaut syndrome, of which the cause could be an adverse effect of further attenuated live (FL) measles vaccine. The pre- and peri-natal histories of the patient were uneventful, except that he was one of monozygotic twins. He had developed normally until 24 months of life, whe...

journal_title：Brain & development

authors： Ishikawa T,Ogino C,Chang S

更新日期：1999-12-01 00:00:00

abstract：:A servo system including a microwave generator was applied to raise a rat's body temperature at a pre-set rate. Using this system the effects of age and the temperature elevation rate upon febrile seizures in rats were studied. The relationship between the brain GABA content and hyperthermia was also studied. From the...

journal_title：Brain & development

authors： Morimoto T,Nagao H,Sano N,Takahashi M,Matsuda H

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVE:This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS:A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Pati...

journal_title：Brain & development

authors： Takami Y,Nakagawa T

更新日期：2019-08-01 00:00:00

abstract：:We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...

journal_title：Brain & development

authors： Tohda C,Nakanishi R,Kadowaki M

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...

journal_title：Brain & development

authors： Gucuyener K,Beken S,Ergenekon E,Soysal S,Hirfanoglu I,Turan O,Unal S,Altuntas N,Kazanci E,Kulali F,Koc E,Turkyilmaz C,Onal E,Atalay Y

更新日期：2012-04-01 00:00:00

abstract：INTRODUCTION:The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 r...

journal_title：Brain & development

authors： Di Meglio C,Bonello-Palot N,Boulay C,Milh M,Ovaert C,Levy N,Chabrol B

更新日期：2016-05-01 00:00:00

abstract：:MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...

journal_title：Brain & development

authors： Yokota K,Sano K,Murofushi Y,Yoshimaru D,Takanashi JI

更新日期：2018-11-01 00:00:00

abstract：:CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...

journal_title：Brain & development

authors： Ozaki A,Sasaki M,Hiraide T,Sumitomo N,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sato N,Nakashima M,Saitsu H

更新日期：2020-06-01 00:00:00

abstract：:A 10-year-old girl with a mass lesion in the left deep frontal lobe was reported. Clinically, seizures occurred at 3 years and 8 months and became intractable around the age of 5.5 years. EEG initially showed focal spikes on the left fronto-central area and later developed into diffuse slow spike and wave complexes (D...

journal_title：Brain & development

authors： Honda K,Shinomiya N,Nomura Y,Sato K,Segawa M

更新日期：1985-01-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that c...

journal_title：Brain & development

authors： Harahap IS,Saito T,San LP,Sasaki N,Gunadi,Nurputra DK,Yusoff S,Yamamoto T,Morikawa S,Nishimura N,Lee MJ,Takeshima Y,Matsuo M,Nishio H

更新日期：2012-03-01 00:00:00

abstract：INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...

journal_title：Brain & development

authors： Ieda D,Hori I,Nakamura Y,Ohshita H,Negishi Y,Shinohara T,Hattori A,Kato T,Inukai S,Kitamura K,Kawai T,Ohara O,Kunishima S,Saitoh S

更新日期：2018-06-01 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

authors： Horie M,Okamura H

更新日期：2017-11-01 00:00:00