Abstract：
:The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years (mean age, 8 years and 1 month) whose seizures were hard to control with the use of two or more drugs among sodium valproate, carbamazepine and clonazepam. Thirty-two of the 37 patients were complicated with mental retardation. A daily dose of 10mg/kg of AZA was first administered and then the dosage was increased up to 20mg/kg based on the clinical response and side effects. The maintenance daily dosage of AZA (12.2+/-4.2mg/kg) produced a steady-state plasma concentration of 6.2+/-4.5 microg/ml. Among the 37 patients, complete seizure control for more than 3 years was obtained in four patients. Although there were no significant differences, all of the four patients were classified as having symptomatic localization-related epilepsies. Seizures recurred in five after complete remission for at least 6 months, and six showed >50% decrease in seizure frequency for more than 6 months after the introduction of AZA. Twenty-eight patients, who were taking AZA for 10 months to 14 years (mean, 6 years and 5 months), were examined for the formation of renal calculi. None of them showed evidence of renal calculi. This study reinforces the idea that AZA may be a useful adjunct drug in selected patients with refractory symptomatic localization-related epilepsies.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Katayama F,Miura H,Takanashi Sdoi
10.1016/s0387-7604(02)00003-7keywords:
subject
Has Abstractpub_date
2002-04-01 00:00:00pages
150-4issue
3eissn
0387-7604issn
1872-7131pii
S0387760402000037journal_volume
24pub_type
临床试验,杂志文章abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.12.004
更新日期：2015-09-01 00:00:00
abstract：:The neuropathological characteristics and alteration of the dopamine D2 receptor (D2R) were investigated in 27 cases of hypoxic-ischemic basal ganglia necrosis (BGN) by means of neuropathological and immunohistochemical methods. Perinatal hypoxic-ischemic BGN manifested neuronal karyorrhexis as well as eosinophilia, k...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00003-5
更新日期：1998-03-01 00:00:00
abstract：:Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the g...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80066-3
更新日期：1986-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.002
更新日期：2016-08-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.06.008
更新日期：2010-05-01 00:00:00
abstract：:The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80030-9
更新日期：1985-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.05.004
更新日期：2010-06-01 00:00:00
abstract：OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.12.010
更新日期：2014-01-01 00:00:00
abstract：:We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00217-6
更新日期：2003-04-01 00:00:00
abstract：:The aim of this study is to reveal detailed clinical manifestations and an evolution of ictal EEG discharges of convulsions with mild gastroenteritis (CwG). We recorded ictal EEGs of six patients with CwG. Clinical manifestations included loss of responsiveness, motion arrest, cyanosis, lateral eye deviation, and hemi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.06.002
更新日期：2007-01-01 00:00:00
abstract：PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.02.004
更新日期：2013-09-01 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
pub_type： 杂志文章
doi：10.1016/0387-7604(96)00014-9
更新日期：1996-07-01 00:00:00
abstract：:Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2006.07.012
更新日期：2007-05-01 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
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00148-4
更新日期：1996-05-01 00:00:00
abstract：AIMS:Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive j...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.02.005
更新日期：2014-02-01 00:00:00
abstract：:Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00129-7
更新日期：2000-08-01 00:00:00
abstract：:Several studies have demonstrated the slowing effect of corticosteroids on the decline of muscle strength in Duchenne muscular dystrophy (DMD). Deflazacort (DFC) is supposed to have fewer side effects than prednisone (PRED). An ongoing double blind multicenter study is comparing the effects and side effects of deflaza...
journal_title：Brain & development
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1995-01-01 00:00:00
abstract：:Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studie...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.09.003
更新日期：2006-05-01 00:00:00
abstract：:Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80006-x
更新日期：1981-01-01 00:00:00
abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.003
更新日期：2016-08-01 00:00:00
abstract：OBJECTIVE:As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reli...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.01.012
更新日期：2018-06-01 00:00:00
abstract：:We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00168-9
更新日期：1996-05-01 00:00:00
abstract：:The aim of this study is to investigate predictive factors of post-traumatic syndrome in children with minor head injury. Prospective neurological, electroencephalographic and psychological investigations were performed in 98 children aged 3-13 years within 24 h after the trauma and 4-6 weeks later. Inclusion criteria...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00110-4
更新日期：2004-03-01 00:00:00
abstract：:To better define the characteristic clinical features of benign convulsions with mild gastroenteritis, recently recognized as a new entity in Japan, we reviewed all the 10 patients we have seen from 1992 to 1994. The clinical features have been previously reported in the literature to be afebrile generalized tonic-clo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00074-l
更新日期：1995-09-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.004
更新日期：2016-02-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80045-7
更新日期：1988-01-01 00:00:00
abstract：:Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00047-f
更新日期：1995-07-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.007
更新日期：2013-11-01 00:00:00
abstract：:Sixty patients (age-range one month to 14 years) with other types of epilepsy than infantile spasms were treated with clonazepam. Disappearance of seizures and normalization of abnormal EEG with disappearance of seizures were recognized in 77% and 50%, respectively. Seizures disappeared in 71% of the patients with gen...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00085-6
更新日期：2000-01-01 00:00:00
