Alterations of tetrahydrobiopterin biosynthesis and pteridine levels in mouse tissues during growth and aging.

abstract：BACKGROUND:The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. METHODS:Levels of 49 cytokines and chemokines, including osteopontin (OPN), were measured in serum and cerebrospinal fluid (CSF) of children with AE (n = 17) or febrile convulsion (FC; n = 8; control grou...

journal_title：Brain & development

authors： Kawahara Y,Morimoto A,Oh Y,Furukawa R,Wakabayashi K,Monden Y,Osaka H,Yamagata T

更新日期：2020-02-01 00:00:00

abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

journal_title：Brain & development

authors： Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

更新日期：1990-01-01 00:00:00

abstract：:The developmental expression of monocyte chemoattractant protein-1 (MCP-1) in the cerebellum, medulla oblongata and pons was investigated in 26 normal human brains, ranging from 20 weeks of gestation (GW) to adulthood by means of an immunohistochemical method. Immunoreactivity to MCP-1 was observed in neurons of the c...

journal_title：Brain & development

authors： Meng SZ,Oka A,Takashima S

更新日期：1999-01-01 00:00:00

abstract：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...

journal_title：Brain & development

authors： Morioka M,Marubayashi T,Masumitsu T,Miura M,Ushio Y

更新日期：1995-05-01 00:00:00

abstract：:Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, ...

journal_title：Brain & development

authors： Sunaga Y,Ohtsuka T,Nagashima K,Kuroume T

更新日期：1993-03-01 00:00:00

abstract：:We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....

journal_title：Brain & development

authors： Ide S,Sasaki M,Kato M,Shiihara T,Kinoshita S,Takahashi JY,Goto Y

更新日期：2010-06-01 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：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...

journal_title：Brain & development

authors： Afenjar A,Moutard ML,Doummar D,Guët A,Rabier D,Vermersch AI,Mignot C,Burglen L,Heron D,Thioulouse E,de Villemeur TB,Campion D,Rodriguez D

更新日期：2007-10-01 00:00:00

abstract：:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...

journal_title：Brain & development

authors： Urgelles E,Pascual-Castroviejo I,Roche C,Moneo JL,Martinez MA,Vega A

更新日期：1996-01-01 00:00:00

abstract：:Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditor...

journal_title：Brain & development

authors： Nakamura M,Yamagata T,Mori M,Momoi MY

更新日期：2005-03-01 00:00:00

abstract：:Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyam...

journal_title：Brain & development

authors： Komur M,Unal S,Okuyaz C,Ozgur A

更新日期：2014-06-01 00:00:00

abstract：:Since 1988, we have diagnosed 6 cases of hereditary progressive dystonia with marked diurnal fluctuation (HPD) in Taiwan. All cases presented with clinical features similar to those described by Segawa. They consisted of four sporadic and two familial cases. The age at onset ranged from 18 months to 8 years. There is ...

journal_title：Brain & development

authors： Wang PJ,Ko YM,Young C,Hwu WL,Shen YZ

更新日期：1994-03-01 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：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...

journal_title：Brain & development

authors： Bardy AH,Seppälä T,Salokorpi T,Granström ML,Santavuori P

更新日期：1991-05-01 00:00:00

abstract：:The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...

journal_title：Brain & development

authors： Yoshioka H,Yoshida A,Ochi M,Mino M,Kasubuchi Y,Sawada T,Kusunoki T

更新日期：1980-01-01 00:00:00

abstract：:Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...

journal_title：Brain & development

authors： Castro-Gago M,Dacruz-Alvarez D,Pintos-Martínez E,Beiras-Iglesias A,Arenas J,Martín MÁ,Martínez-Azorín F

更新日期：2016-01-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and ca...

journal_title：Brain & development

authors： Tutunculer F,Acunas B,Hicdonmez T,Deviren A,Pelitli V

更新日期：2004-04-01 00:00:00

abstract：OBJECTIVES:Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic ...

journal_title：Brain & development

authors： Hayashi N,Okumura A,Kubota T,Tsuji T,Kidokoro H,Fukasawa T,Hayakawa F,Ando N,Natsume J

更新日期：2012-09-01 00:00:00

abstract：:Many benzodiazepines used as anticonvulsants have nitrogen radicals in positions 1 and 4. Clobazam has nitrogen radicals in positions 1 and 5. We studied the antiepileptic effect of clobazam in 36 patients with intractable epilepsies in childhood. Their ages were 1 year 1 month to 16 years 5 months (mean 8 years). The...

journal_title：Brain & development

authors： Shimizu H,Abe J,Futagi Y,Onoe S,Tagawa T,Mimaki T,Yamatodani A,Kato M,Kamio M,Sumi K,Sugita T,Yabuuchi H

更新日期：1982-01-01 00:00:00

abstract：:The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges w...

journal_title：Brain & development

authors： Okumura A,Hayakawa F,Kato T,Itomi K,Maruyama K,Kubota T,Suzuki M,Kidokoro H,Watanabe K

更新日期：2008-04-01 00:00:00

abstract：:We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance im...

journal_title：Brain & development

authors： Hino-Fukuyo N,Kikuchi A,Iwasaki M,Sato Y,Kubota Y,Kobayashi T,Nakayama T,Haginoya K,Arai-Ichinoi N,Niihori T,Sato R,Suzuki T,Kudo H,Funayama R,Nakayama K,Aoki Y,Kure S

更新日期：2017-04-01 00:00:00

abstract：BACKGROUND:Nutritional deficiency in pregnant women is a confirmed cause of neural tube defects (NTDs). Alongside to this background, We sought to determine the nutritional status and level of awareness on the issue of the NTDs as well as folic acid (FA) utilization among women who born infants with NTDs in Tigray regi...

journal_title：Brain & development

authors： Welderufael AL,Berihu BA,Berhe Y,Magana T,Asfaw S,Gebreselassie K,Belay E,Kebede H,Mulugeta A

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...

journal_title：Brain & development

authors： Knight O,Bebbington A,Siafarikas A,Woodhead H,Girdler S,Leonard H

更新日期：2013-11-01 00:00:00

abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...

journal_title：Brain & development

authors： Takahashi S,Takahashi Y,Kondo N,Orii T

更新日期：2001-07-01 00:00:00

abstract：:To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...

journal_title：Brain & development

authors： Zhao J,Uchino M,Yoshioka K,Miyatake M,Miike T

更新日期：1991-01-01 00:00:00

abstract：:In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time ...

journal_title：Brain & development

authors： Mouridsen SE,Rich B,Isager T

更新日期：1999-10-01 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：: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：: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：: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