What are the reasons for the strikingly different approaches to the use of ACTH in infants with West syndrome?

abstract：:Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...

journal_title：Brain & development

authors： Kawase K,Nishino I,Sugimoto M,Kouwaki M,Koyama N,Yokochi K

更新日期：2015-02-01 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

authors： Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CW

更新日期：2019-11-01 00:00:00

abstract：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...

journal_title：Brain & development

authors： Kitai Y,Hirai S,Okuyama N,Hirotsune M,Nishimoto S,Mizutani S,Okumura A,Kumada S,Arai H

更新日期：2020-04-01 00:00:00

abstract：OBJECTIVE:This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). METHODS:We analyzed 124 FHR traces of neonates delivered preterm at 27-33 weeks' gestation to 105 mothers. FHR traces 1-3h before...

journal_title：Brain & development

authors： Kurahashi H,Okumura A,Kubota T,Kidokoro H,Maruyama K,Hayakawa M,Itakura A,Matsuzawa K,Yamamoto H,Kato T,Hayakawa F,Watanabe K

更新日期：2016-02-01 00:00:00

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

authors： Saeki K,Saito Y,Komaki H,Sakakibra T,Nakagawa E,Sugai K,Sakuma H,Sasaki M,Honda T,Hayashi H,Katori N,Miyahara Y

更新日期：2010-08-01 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

authors： Eeg-Olofsson O

更新日期：1980-01-01 00:00:00

abstract：:To investigate the development of the voluntary control of saccadic eye movement, we examined eye movements in 99 normal children (4-13 years of age). Subjects were asked to fixate a central light for 3-5 s. A target was then presented, either to its right or left. In visually guided saccades, the mean latencies of th...

journal_title：Brain & development

authors： Fukushima J,Hatta T,Fukushima K

更新日期：2000-05-01 00:00:00

abstract：:Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...

journal_title：Brain & development

authors： Hirano Y,Oguni H,Nagata S

更新日期：2016-09-01 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

authors： Shibasaki H

更新日期：1993-11-01 00:00:00

abstract：:In the acute precollicular-postmammillary decerebrate cat, stimulation of the mesencephalic locomotor region (MLR) induces "controlled locomotion" on a moving treadmill. Stimulation of the dorsal area and of the ventral area of the pons at its midline elicited a long-lasting decrease and an increase in the tone of the...

journal_title：Brain & development

authors： Mori S,Ohta Y,Sakamoto T,Nonaka S

更新日期：1986-01-01 00:00:00

abstract：:West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...

journal_title：Brain & development

authors： Brunson KL,Eghbal-Ahmadi M,Baram TZ

更新日期：2001-11-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS:Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study....

journal_title：Brain & development

authors： Irie S,Hirai K,Kano K,Yanabe S,Migita M

更新日期：2020-08-01 00:00:00

abstract：:We report a 2-month-old boy who presented with apneic attacks as a manifestation of epileptic seizures at onset and eventually progressed to infantile spasms. At onset, at 2 months of age, apneic attacks were the sole symptom of epileptic fits. Although these seizures were accompanied by cyanosis, bradycardia was not ...

journal_title：Brain & development

authors： Kamei A,Ichinohe S,Ito M,Fujiwara T

更新日期：1996-05-01 00:00:00

abstract：:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...

journal_title：Brain & development

authors： Papetti L,Parisi P,Leuzzi V,Nardecchia F,Nicita F,Ursitti F,Marra F,Paolino MC,Spalice A

更新日期：2013-10-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-...

journal_title：Brain & development

authors： Yurov YB,Vostrikov VM,Vorsanova SG,Monakhov VV,Iourov IY

更新日期：2001-12-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...

journal_title：Brain & development

authors： Kobayashi Y,Ohashi T,Akasaka N,Tohyama J

更新日期：2012-08-01 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

authors： Lee YY,Lin KL,Wang HS,Chou ML,Hung PC,Hsieh MY,Lin JJ,Wong AM

更新日期：2008-01-01 00:00:00

abstract：:Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homo...

journal_title：Brain & development

authors： Zeitoun O,Ketelsen UP,Wolff G,Müller CR,Korinthenberg R

更新日期：1997-07-01 00:00:00

abstract：:Serial changes of MRI scanning of an 11-year-old boy with hemiparesis due to a germ cell tumor in the basal ganglia are presented. Initial brain MRI T1-weighted images revealed a subtle mixed signal intensity lesion at left anterior and posterior limbs of the internal capsule. This lesion was not enhanced with Gd-DTPA...

journal_title：Brain & development

authors： Takano T,Matsui E,Yamano T,Shimada M,Nakasu Y,Handa J

更新日期：1993-07-01 00:00:00

abstract：:A 2-yr-3-mo-old girl with metachromatic leukodystrophy (MLD) was examined using serial multiple electrophysiological procedures. Sensory nerve conduction velocity was delayed earlier and more severely than motor nerve conduction velocity. Visual evoked potentials (VEPs) showed prolonged latency of wave IV. Auditory br...

journal_title：Brain & development

authors： Takakura H,Nakano C,Kasagi S,Takashima S,Takeshita K

更新日期：1985-01-01 00:00:00

abstract：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...

journal_title：Brain & development

authors： Moog U,Van Roozendaal K,Smeets E,Tserpelis D,Devriendt K,Buggenhout GV,Frijns JP,Schrander-Stumpel C

更新日期：2006-06-01 00:00:00

abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...

journal_title：Brain & development

authors： Hung KL

更新日期：1986-01-01 00:00:00

abstract：:The future of human societies depends on children being able to achieve their optimal physical and psychological development. Developmental delay is failure to acquire age-appropriate functionality. It may involve one or more streams of development. Responsive parenting has potential to promote better development. Pri...

journal_title：Brain & development

authors： Aly Z,Taj F,Ibrahim S

更新日期：2010-02-01 00:00:00

abstract：PURPOSE:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...

journal_title：Brain & development

authors： Zhang H,Zhang W,Li Y,Yan J,Zhang J,Wang B

更新日期：2018-02-01 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：:We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...

journal_title：Brain & development

authors： Hattori H,Yamano T,Hayashi K,Osawa M,Kondo K,Aihara M,Haginoya K,Hamano S,Izumi T,Kaneko K,Kato I,Matsukura M,Minagawa K,Miura T,Ohtsuka Y,Sugai K,Takahashi T,Yamanouchi H,Yamamoto H,Yoshikawa H

更新日期：2008-09-01 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：:Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...

journal_title：Brain & development

authors： Seidl Z,Süssová J,Obenberger J,Vanecková M,Viták T,Rydland J

更新日期：2001-03-01 00:00:00

abstract：BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...

journal_title：Brain & development

authors： Harahap NI,Takeuchi A,Yusoff S,Tominaga K,Okinaga T,Kitai Y,Takarada T,Kubo Y,Saito K,Sa'adah N,Nurputra DK,Nishimura N,Saito T,Nishio H

更新日期：2015-08-01 00:00:00

abstract：:The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...

journal_title：Brain & development

authors： Cohen ME,Duffner PK

更新日期：1989-01-01 00:00:00