Pharmacokinetics of zonisamide in perinatal period.

abstract：:A 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid ar...

journal_title：Brain & development

authors： Okanishi T,Saito Y,Miki S,Nagaishi J,Hanaki K,Tomita Y,Fukuda C,Fujii S,Fujiwara K,Kawamoto K,Hata F,Maegaki Y,Ohno K

更新日期：2007-04-01 00:00:00

abstract：:Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...

journal_title：Brain & development

authors： Marcuzzo S,Dutra MF,Stigger F,do Nascimento PS,Ilha J,Kalil-Gaspar PI,Achaval M

更新日期：2010-04-01 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

authors： Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S

更新日期：2007-07-01 00:00:00

abstract：:Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined as disorders caused by a genetic defect in catabolism of sphingosine-containing lipids. Catabolism of these lipids involves enzymes and activator proteins. After the discovery of lysosomes by de Duve and the demonstration of the first defe...

journal_title：Brain & development

authors： Ozkara HA

更新日期：2004-12-01 00:00:00

abstract：:In the present study, we investigated age-related changes in pteridine levels and enzymatic activity responsible for tetrahydrobiopterin biosynthesis in mouse tissues. Until about 15 weeks after the birth, the remarkable change of tetrahydrobiopterin (BH4) was observed in all tissues tested. Between 20 and 50 weeks af...

journal_title：Brain & development

authors： Yoshida YI,Eda S,Masada M

更新日期：2000-09-01 00:00:00

abstract：:We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...

journal_title：Brain & development

authors： Shigemi R,Fukuda M,Suzuki Y,Morimoto T,Ishii E

更新日期：2011-06-01 00:00:00

abstract：:To determine the effect of flunarizine therapy on patients with alternating hemiplegia of childhood (AHC), we sent a questionnaire by mail to council members of the Japanese Society of Child Neurology. We collected 28 AHC patients, and studied their clinical courses and the effects of drug therapy. All of the patients...

journal_title：Brain & development

authors： Sasaki M,Sakuragawa N,Osawa M

更新日期：2001-08-01 00:00:00

abstract：:Two siblings with adenosine deaminase deficiency were successfully treated with allogeneic bone marrow transplantation without conditioning. Although the patients were free from infections after immunologic reconstitution, both showed sensorineural deafness at 1 year of age. Because there were no structural abnormalit...

journal_title：Brain & development

authors： Tanaka C,Hara T,Suzaki I,Maegaki Y,Takeshita K

更新日期：1996-07-01 00:00:00

abstract：:This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...

journal_title：Brain & development

authors： Wu HS,Yei QF,Liu TC,Zhang WC

更新日期：1988-01-01 00:00:00

abstract：:Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...

journal_title：Brain & development

authors： Trollmann R,Gassmann M

更新日期：2009-08-01 00:00:00

abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...

journal_title：Brain & development

authors： Otsuka T,Sunaga Y,Hikima A

更新日期：1994-11-01 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

authors： Nakamura M,Watanabe S,Inagaki M,Hirai M,Miki K,Honda Y,Kakigi R

更新日期：2013-04-01 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

authors： Yamada A

更新日期：1984-01-01 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

authors： Battini R,Olivieri G,Milone R,Mazio F,Scalise R,Verdolotti T,Primiano G,Genovese O,Mercuri E,Servidei S

更新日期：2020-06-01 00:00:00

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

authors： Gobbi G

更新日期：2005-04-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child d...

journal_title：Brain & development

authors： Okai Y,Nakata T,Miura K,Ohno A,Wakako R,Takahashi O,Maki Y,Tanaka M,Sakaguchi Y,Ito Y,Yamamoto H,Kidokoro H,Takahashi Y,Natsume J

更新日期：2021-02-01 00:00:00

abstract：:Ninety-nine cases of Rett syndrome (RTT) diagnosed clinically (age range 3 years 6 months to 29 years 9 months) were evaluated for the ability of language. The presence of meaningful words, vocabularies, and ages at the start and disappearance of speech were assessed. Phenotype/genotype correlation was evaluated in 22...

journal_title：Brain & development

authors： Uchino J,Suzuki M,Hoshino K,Nomura Y,Segawa M

更新日期：2001-12-01 00:00:00

abstract：:Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse...

journal_title：Brain & development

authors： Morita H,Imamura A,Matsuo N,Tatebayashi K,Omoya K,Takahashi Y,Tsujino S

更新日期：2006-08-01 00:00:00

abstract：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...

journal_title：Brain & development

authors： Imamura S,Sakuma K,Takahashi T

更新日期：1983-01-01 00:00:00

abstract：:The purpose of this study is to elucidate the interrelation between the M and F wave characteristics of the median nerve and the grip power in patients with spinal muscular atrophy (SMA). The SMA patients showed decreased amplitudes of the M and F waves, decreased frequency of the F wave, and an increase of the F/M ra...

journal_title：Brain & development

authors： Imai T,Saito M,Matsumoto H,Ishikawa Y,Ishikawa Y,Minami R

更新日期：1998-01-01 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：:A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...

journal_title：Brain & development

authors： Yoshikawa H,Abe T

更新日期：2003-03-01 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

authors： Numata Y,Uematsu M,Suzuki S,Miyabayashi T,Oyama T,Kubota S,Itoh T,Hino-Fukuyo N,Takahashi T,Kure S

更新日期：2015-01-01 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

authors： Iwasaki H,Watanabe H,Iida M,Ogawa S,Tabe M,Higaki K,Nanba E,Suzuki Y

更新日期：2006-09-01 00:00:00

abstract：:Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...

journal_title：Brain & development

authors： Sijens PE,Fock JM,Meiners LC,Potze JH,Irwan R,Oudkerk M

更新日期：2007-06-01 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：: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

authors： Miano S,Peraita-Adrados R,Montesano M,Castaldo R,Forlani M,Villa MP

更新日期：2011-05-01 00:00:00

abstract：:Septo-optic-pituitary dysplasia is a syndrome characterized by abnormalities of midline brain structures, optic nerve hypoplasia, and congenital hypothalamic-pituitary insufficiency. Four infants, diagnosed as having clinical variations of this disorder, are described. The first had agenesis of the septum pellucidum a...

journal_title：Brain & development

authors： Morishima A,Aranoff GS

更新日期：1986-01-01 00:00:00

abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...

journal_title：Brain & development

authors： Yokochi K

更新日期：1997-12-01 00:00:00

abstract：:Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a ra...

journal_title：Brain & development

authors： Fong CY,Aung HWW,Khairani A,Gan CS,Shahrizaila N,Goh KJ

更新日期：2018-06-01 00:00:00