Magnetic resonance studies of brain lesions in patients with Kawasaki disease.

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：:Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...

journal_title：Brain & development

authors： Wakamoto H,Sumi A,Motoki T,Ohmori H

更新日期：2010-09-01 00:00:00

abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...

journal_title：Brain & development

authors： Sasongko TH,Gunadi,Yusoff S,Atif AB,Fatemeh H,Rani A,Marini M,Ab Aziz CB,Zabidi-Hussin ZA,Nishio H,Zilfalil BA

更新日期：2010-05-01 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

abstract：UNLABELLED:X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. OBJECTIVE:To describe the clinical course of affected male patients from South Brazil betwee...

journal_title：Brain & development

authors： Jardim LB,da Silva AC,Blank D,Villanueva MM,Renck L,Costa ML,Vargas CR,Deon M,Coelho Dl,Vedolin L,de Castro CG Jr,Gregianin L,Bonfim C,Giugliani R

更新日期：2010-03-01 00:00:00

abstract：BACKGROUND:Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT:We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She ...

journal_title：Brain & development

authors： Nomura S,Kashiwagi M,Tanabe T,Oba C,Yanagi K,Kaname T,Okamoto N,Ashida A

更新日期：2021-01-12 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

authors： Iannetti P,Morellini M,Raucci U,Cappellacci S

更新日期：1988-01-01 00:00:00

abstract：:The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...

journal_title：Brain & development

authors： Sato H,Doi M,Okuno T

更新日期：1979-01-01 00:00:00

abstract：:Somatomotor cortex of mice with microcephaly induced by DNA polymerase inhibitor cytosine arabinoside (Ara-C), has been studied with a modified Golgi-Cox staining and a HRP retrograde tracing method. Microcephalic mice were prepared by prenatal injections of cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Cyt...

journal_title：Brain & development

authors： Ohno M

更新日期：1984-01-01 00:00:00

abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...

journal_title：Brain & development

authors： Arslan M,Vurucu S,Balamtekin N,Unay B,Akin R,Kurt I,Ozcan O

更新日期：2009-06-01 00:00:00

abstract：:A case of precocious puberty due to postmeningitic hydrocephalus was presented. Concentrations of serum gonadotropins and estradiol were found to be elevated, and the response of LH to LHRH was also high, similar to that in the late pubertal stage. CT scanning demonstrated marked dilatation of the third ventricle. It ...

journal_title：Brain & development

authors： Tomono Y,Maki Y,Ito M,Nakada Y

更新日期：1983-01-01 00:00:00

abstract：:Penicillin (PC) neurotoxicity (convulsions and encephalopathy) is considered to be due to GABAergic inhibition. The effects of penicillin G(PCG) on [3H]flunitrazepam (FNZ) binding in rat neuron-enriched primary cultures was examined to assess the role of the benzodiazepine (BDZ) receptor in the neurotoxicity. PCG appl...

journal_title：Brain & development

authors： Shiraishi H,Ito M,Go T,Mikawa H

更新日期：1993-09-01 00:00:00

abstract：:Head angular stability is essential for postural control in whole body movement. Using the opto-electronic ELITE system, we have studied head orientation during the movements of squatting from the standing position and straightening-up from the squatting position in 12 children with spastic diplegia and 12 age-matched...

journal_title：Brain & development

authors： Dan B,Bouillot E,Bengoetxea A,Noël P,Kahn A,Cheron G

更新日期：2000-03-01 00:00:00

abstract：:Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...

journal_title：Brain & development

authors： Cirignotta F,Sforza E,Burroni M,Zappella M,Lugaresi E

更新日期：1990-01-01 00:00:00

abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...

journal_title：Brain & development

authors： Arslanoglu S,Yalaz M,Gökşen D,Coker M,Tütüncüoglu S,Akisu M,Darcan S,Kultursay N,Ciriş M,Demirtaş E

更新日期：2001-12-01 00:00:00

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：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...

journal_title：Brain & development

authors： Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno K

更新日期：2015-08-01 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：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 00:00:00

abstract：BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...

journal_title：Brain & development

authors： Kimura S,Shiraishi H,Egawa K,Uchida M,Ueno M

更新日期：2021-01-01 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：:We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...

journal_title：Brain & development

authors： Park JY,Byeon JH,Park SW,Eun SH,Chae KY,Eun BL

更新日期：2013-01-01 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：:Response inhibition is an attention function which develops relatively early during childhood. Behavioral data suggest that by the age of 3, children master the basic task requirements for the assessment of response inhibition but performance improves substantially until the age of 7. The neuronal mechanisms underlyin...

journal_title：Brain & development

authors： Mehnert J,Akhrif A,Telkemeyer S,Rossi S,Schmitz CH,Steinbrink J,Wartenburger I,Obrig H,Neufang S

更新日期：2013-11-01 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：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...

journal_title：Brain & development

authors： Kurahashi N,Miyake N,Mizuno S,Koshimizu E,Kurahashi H,Yamada K,Natsume J,Aoki Y,Nakamura M,Taniai H,Maki Y,Abe-Hatano C,Matsumoto N,Maruyama K

更新日期：2017-09-01 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

authors： Adachi T,Koeda T,Hirabayashi S,Maeoka Y,Shiota M,Wright EC,Wada A

更新日期：2004-08-01 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：: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：: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

authors： Lossin C

更新日期：2009-02-01 00:00:00