Learn More
We studied the clinical efficacy of allopurinol as add-on therapy in 31 patients with intractable epilepsy. When administered for a short time, allopurinol was effective in 17 patients (55%); 8 were seizure-free, 8 had 75% decrease in seizure frequency, and 1 had greater than 50% decrease. Allopurinol was most effective in patients with localization-related(More)
AY-9944 (trans-1,4-bis(2-chlorobenzylaminoethyl)cyclohexane dihydrochloride), a cationic amphiphilic drug, caused a rapid, irreversible and dose-dependent reduction of acid sphingomyelinase activity in normal human fibroblasts without changing the activities of other lysosomal hydrolases tested. Examinations of activities against synthetic substrates and of(More)
An 8-year old girl with a not previously described type of complicated hereditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Severe delay in mental development was observed. Peripheral neuropathy and optic atrophy developed at 5 years of age. On brain magnetic(More)
We examined the present situation of children and adolescents with psycho-motor disabilities, and their parents by means of a questionnaire survey. The survey was conducted on the family members of outpatients, 116 males and 86 females. About half the patients were older than 15 years of age. The families of 128 patients did not use a home help service such(More)
Breath tests using fatty acids labeled with a stable isotope (carbon 13) were carried out on epileptic patients treated with valproic acid in order to detect abnormal fatty acid metabolism. The patients were given 13C-octanoic acid or 13C-palmitic acid orally, and expired air was collected at appropriate intervals for the analysis of 13CO2 content by a mass(More)
A 1-year-and-9-months old boy with gait disturbance during the 3rd week of Kawasaki disease (KD) was described. He had been previously healthy, and developed high fever and rash. The diagnosis of KD was based on 5 of 6 major criteria on the 3rd clinical day. He was initially treated with intravenous gamma-globulin 400 mg/kg/day for five days. On the 17th(More)
We studied the clinical usefulness of I123-IMP SPECT in 50 pediatric patients with CNS disorders, which were categorized into the convulsive disorder group (n = 20), the cerebrovascular disorder group (n = 10), the acute encephalopathy or CNS infection group (n = 10), the metabolic or degenerative disorder group (n = 6), the congenital abnormality group (n(More)
OBJECTIVE The nutritive evaluation and the serum carnitine values were measured for persons with severe motor and intellectual disabilities with enteral (tube) feeding. METHODS In Shimada Rehabilitation Center, twenty one people who had serum albumin levels of 3.4 g/dl or less, and were taking nutrition with enteral (tube) feeding, were tested. Body(More)