We report a 2-month-old male with West syndrome associated with infantile hypophosphatasia. The male infant was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean… (More)
The human ECHS1 gene encodes the short-chain enoyl coenzyme A hydratase, the enzyme that catalyzes the second step of β-oxidation of fatty acids in the mitochondrial matrix. We report on a boy with… (More)
West syndrome (WS) is a severe age-dependent intractable epilepsy in infants that frequently results in mental retardation. ACTH or glucocorticoids are among several effective treatments in WS, but… (More)
We describe a peculiar form of epilepsy following prolonged and vigorous bouts of crying in infancy which was misdiagnosed as breath holding spells. Three patients with crying-induced epilepsy had… (More)
We herein investigated the influence of smoking on changes in the levels of perioperative oxidative stress after pulmonary resection. A total of 31 patients with primary lung cancer who underwent… (More)
Pompe disease is a rare autosomal recessive disease caused by the deficiency of acid alpha-glucosidase (GAA), which is required for the degradation of lysosomal glycogen. Glycogen accumulation in… (More)
INTRODUCTION
Epilepsy is considered to arise from dysfunction in neural networks. Recent advances in neuroimaging and its analysis have made it possible to investigate both functional and structural… (More)
Journal of infection and chemotherapy : official…
2002
A healthy 6-year-old boy had complained of fever and chest pain for 3 days. On admission, he had a mass on the sternum, 3.7 x 2.5 cm in size. Abnormal laboratory findings included a white blood cell… (More)
Urinary and cerebrospinal fluid (CSF) levels of 8-hydroxydeoxyguanosine (8-OHdG) were examined to estimate the relevance of oxidative stress in children with brain damage. Urinary 8-OHdG levels were… (More)
We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by… (More)