Correlation between CSWS and aphasia in Landau-Kleffner syndrome: a study of three cases.

abstract：:Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...

journal_title：Brain & development

authors： Vanhatalo S,Nikolajev K,Kiekara O,Seuri R,Riikonen R

更新日期：2003-08-01 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

authors： Cash SJ,Mcgue BP,Reynolds TS,Crist ER

更新日期：2020-02-01 00:00:00

abstract：INTRODUCTION:Primary generalized dystonia is a rare movement disorder. Medical treatment rarely relieves symptoms. The aim of this study was to investigate the efficacy and safety of bilateral pallidal stimulation in 6 children and adolescents with primary generalized dystonia. In addition, we strived to find predictor...

journal_title：Brain & development

authors： Borggraefe I,Mehrkens JH,Telegravciska M,Berweck S,Bötzel K,Heinen F

更新日期：2010-03-01 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 family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...

journal_title：Brain & development

authors： Yoshioka M,Kuroki S,Nigami H,Kawai T,Nakamura H

更新日期：1992-09-01 00:00:00

abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...

journal_title：Brain & development

authors： Roy S,Kale A,Dangat K,Sable P,Kulkarni A,Joshi S

更新日期：2012-01-01 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：BACKGROUND:Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD, the pathological astrocyte causes a pronounced immune response. The inflammatory environment in the brain might play an important role in the neuronal...

journal_title：Brain & development

authors： Kora K,Kato T,Ide M,Tanaka T,Yoshida T

更新日期：2020-01-01 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：: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：:The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...

journal_title：Brain & development

authors： Incorpora G,Sorge G,Sorge A,Pavone L

更新日期：2002-12-01 00:00:00

abstract：:The objective of our study was to determine the relation between the serum level of endotoxin at birth and the development of periventricular leukomalacia (PVL) in preterm infants. We studied 68 preterm infants whose gestational ages ranged between 27 and 33 weeks, and birthweights between 1000 and 2000 g. The serum e...

journal_title：Brain & development

authors： Okumura A,Hayakawa F,Kato T,Kuno K,Watanabe K

更新日期：1999-09-01 00:00:00

abstract：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

journal_title：Brain & development

authors： Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

更新日期：2016-08-01 00:00:00

abstract：:A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...

journal_title：Brain & development

authors： Baram TZ

更新日期：2001-11-01 00:00:00

abstract：:Bedside monitoring of cerebral circulation or oxygen metabolism in infants to appropriately manage circulation and establish the oxygen dose, aiming at improving the neurological prognosis, is needed in general clinical practice. Near-infrared spectroscopy is used for measurements of neonatal cerebral Hb oxygen satura...

journal_title：Brain & development

authors： Kusaka T,Isobe K,Yasuda S,Koyano K,Nakamura S,Nakamura M,Ueno M,Miki T,Itoh S

更新日期：2014-04-01 00:00:00

abstract：:Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...

journal_title：Brain & development

authors： Takashima S,Ieshima A,Nakamura H,Becker LE

更新日期：1989-01-01 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：:The objective of the present study was to evaluate sleeping position-dependent effects on cerebral hemodynamics during apnea in preterm infants. To this end, polygraphic studies were performed on 15 stable preterm infants lying prone and lying supine. Changes in cerebral blood volume (DeltaCBV) and in cerebral hemoglo...

journal_title：Brain & development

authors： Pichler G,Schmölzer G,Müller W,Urlesberger B

更新日期：2001-10-01 00:00:00

abstract：:Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...

journal_title：Brain & development

authors： Takayama R,Takahashi Y,Mogami Y,Ikegami M,Mukaida S,Ikeda H,Imai K,Shigematsu H,Suzuki Y,Inoue Y

更新日期：2012-09-01 00:00:00

abstract：:We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...

journal_title：Brain & development

authors： Wada T,Nishiura K,Kuroda M,Asai E,Vu QV,Toma T,Niida Y,Yachie A

更新日期：2012-05-01 00:00:00

abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...

journal_title：Brain & development

authors： Chien YY,Nonaka I

更新日期：1989-01-01 00:00:00

abstract：:The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...

journal_title：Brain & development

authors： Takashima S,Matsui A,Fujii Y,Nakamura H

更新日期：1981-01-01 00:00:00

abstract：:Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, ...

journal_title：Brain & development

authors： Izumi T,Hara K,Ogawa T,Osawa M,Saito K,Novo ML,Fukuyama Y,Takashima S

更新日期：1995-01-01 00:00:00

abstract：BACKGROUND:Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phen...

journal_title：Brain & development

authors： Ito S,Nagumo K,Nishikawa A,Oguni H,Nagata S

更新日期：2021-01-15 00:00:00

abstract：:The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...

journal_title：Brain & development

authors： Ouvrier RA

更新日期：1984-01-01 00:00:00

abstract：:Xeroderma pigmentosum (XP), a genetic disorder in DNA nucleotide excision repair, is characterized by skin hypersensitivity to sunlight and progressive neurological impairment. Laryngeal dystonia and vocal cord paralysis are complications that can arise in older XP group A (XPA) patients. We report three patients with...

journal_title：Brain & development

authors： Miyata R,Sasaki T,Hayashi M,Araki S,Shimohira M,Kohyama J

更新日期：2010-09-01 00:00:00

abstract：:Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...

journal_title：Brain & development

authors： Kutlu NO,Dogrul M,Yakinci C,Soylu H

更新日期：2003-06-01 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：:Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...

journal_title：Brain & development

authors： Ashrafi MR,Tavasoli AR

更新日期：2017-05-01 00:00:00

abstract：:In this study a comparison of the myelination rate in humans in normal and pathologic conditions was made. The progress of myelination was examined on slides stained by the Klüver-Barrera method and evaluated as to four degrees. The prenatal myelination in the brain stem in a group of newborns who died of pregnancy pa...

journal_title：Brain & development

authors： Dambska M,Laure-Kamionowska M

更新日期：1990-01-01 00:00:00