Recent advances in non-invasive studies of higher brain functions.

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：:The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...

journal_title：Brain & development

authors： Ueki Y,Narazaki O,Hanai T

更新日期：1985-01-01 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

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：:Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine m...

journal_title：Brain & development

authors： Percy AK,Zoghbi HY,Glaze DG

更新日期：1987-01-01 00:00:00

abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...

journal_title：Brain & development

authors： Komur M,Ozen S,Okuyaz C,Makharoblıdze K,Erdogan S

更新日期：2013-05-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...

journal_title：Brain & development

authors： Matsumaru N,Hattori R,Ichinomiya T,Tsukamoto K,Kato Z

更新日期：2018-03-01 00:00:00

abstract：OBJECTIVE:To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS:We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated ...

journal_title：Brain & development

authors： Hamano SI,Nagai T,Matsuura R,Hirata Y,Ikemoto S,Oba A,Hiwatari E

更新日期：2018-09-01 00:00:00

abstract：BACKGROUND:Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entiti...

journal_title：Brain & development

authors： Hsieh MY,Chan OW,Lin JJ,Lin KL,Hsia SH,Wang HS,Chiu CH

更新日期：2013-10-01 00:00:00

abstract：:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...

journal_title：Brain & development

authors： Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

更新日期：1988-01-01 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：: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：:In this report, we reviewed the characteristics of motor development and motor symptoms of Rett Syndrome (RTT) and demarcated the early and pathognomonic motor symptom which correlates to the impairment of the higher cortical function (HCF) assessed by the ability of language. It is suggested that failure of locomotio...

journal_title：Brain & development

authors： Segawa M

更新日期：2001-12-01 00:00:00

abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...

journal_title：Brain & development

authors： Vigevano F,Fusco L,Pachatz C

更新日期：2001-11-01 00:00:00

abstract：:A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadrice...

journal_title：Brain & development

authors： Yoda S,Terauchi A,Kitahara F,Akabane T

更新日期：1984-01-01 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：:Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...

journal_title：Brain & development

authors： Nomura Y,Segawa M

更新日期：1992-05-01 00:00:00

abstract：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...

journal_title：Brain & development

authors： Wu XR,Swaiman KF

更新日期：1982-01-01 00:00:00

abstract：:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japa...

journal_title：Brain & development

authors： Kato T,Kato Z,Kuratsubo I,Ota T,Orii T,Kondo N,Suzuki Y

更新日期：2007-06-01 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：:The purpose of this study was to clarify the risk factors of relapse following discontinuation of AEDs in patients with childhood-onset cryptogenic localization-related epilepsies. The subjects were 82 patients who fulfilled the following criteria: (1) age at first visit of less than 15 years, (2) follow-up period of ...

journal_title：Brain & development

authors： Ohta H,Ohtsuka Y,Tsuda T,Oka E

更新日期：2004-01-01 00:00:00

abstract：:Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibro...

journal_title：Brain & development

authors： Ida H,Rennert OM,Watabe K,Eto Y,Maekawa K

更新日期：1994-11-01 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：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...

journal_title：Brain & development

authors： Dubey R,Kaushik JS,Israni A,Saini L,Patel H,Chakrabarty B,Gulati S

更新日期：2016-02-01 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：: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：:We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neu...

journal_title：Brain & development

authors： Nobutoki T,Sasaki M,Fukumizu M,Hanaoka S,Sugai K,Anzai Y,Kaga M

更新日期：2006-01-01 00:00:00

abstract：:The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ sco...

journal_title：Brain & development

authors： Iizuka C,Yamashita Y,Nagamitsu S,Yamashita T,Araki Y,Ohya T,Hara M,Shibuya I,Kakuma T,Matsuishi T

更新日期：2010-09-01 00:00:00

abstract：:Glucose transporter type1 (GLUT-1) deficiency may be rare, but it is a preventable cause of severe learning difficulties; and therefore there is an urgency in making an early diagnosis. Suspicions must be roused when intractable seizures occur in infancy. These may be associated with acquired microcephaly and developm...

journal_title：Brain & development

authors： Gordon N,Newton RW

更新日期：2003-10-01 00:00:00

abstract：PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...

journal_title：Brain & development

authors： Glombova M,Petrak B,Lisy J,Zamecnik J,Sumerauer D,Liby P

更新日期：2019-09-01 00:00:00