MAEDA Tomoki Oita Medical University, School of Medicine, Associate, 医学部, 助手 (80264349)
SATO Keisuke Oita Medical University, School of Medicine, Associate, 医学部, 助手 (40295176)
FUKUSHIMA Naoki Oita Medical University, School of Medicine, Associate, 医学部, 助手 (60218914)
IMAI Kazuhide Oita Medical University, School of Medicine, Associate, 医学部, 助手 (50295177)
|Budget Amount *help
¥2,700,000 (Direct Cost : ¥2,700,000)
Fiscal Year 1999 : ¥700,000 (Direct Cost : ¥700,000)
Fiscal Year 1998 : ¥1,200,000 (Direct Cost : ¥1,200,000)
Fiscal Year 1997 : ¥800,000 (Direct Cost : ¥800,000)
Severe myoclonic epilepsy infants (SME) is a recently defined syndrome (Dravet et al, 1982). Their characteristics are very homogeneous: family history of epilepsy or febrile convulsions, no previous personal history of disease, seizures beginning during the first year of life which are very resistant to all forms of treatment, and all the children affected suffer from intellectural deficiency. A high percentage of family history for epilepsy or convulsions was noted. A more accurate genetic analysis, however, is not examined, and impossible because the type of epilepsy in the family is not indicated in detail and accurately.
Now we examined seizure types, EEG findings and HLA typing of 5 patients in 4 families with SME and their family members.
In 3 families, maternal members had febrile conculsions and epilepsy, two mothers by themselves and a moternal aunt. The patients with SME and their mothers shared common HLA antigen A24(9). But this HLA antigen A29(9) may not be statistically sp
ecific, which is commonly detected in our Japanese. The possibility of moternal transmission and maternal anticipation should be elucidated in a near future.
To elucidate a relationship between neuronal anaplasia, prematurity, neuroepithelial tumor proliferation, and ganglioside contents, we quantified gangliosides by HPTLC in tomors of neuroblastoma.(NB, grade IV), and dysembryoplastic neuroepithelial tumor(DNT, grade I). PPNET, the mostundifferentiated tumor examined had lowest concentration of total lipid-bound sialic acid. GM 3 was the major ganglioside in all undifferentiated tumors (46-72.7% of total lipid-bound sialic acid). GD3 was an another component in PPNET and EPEN(7.2-17.3%). Concentration of a complex gangliosides GM1 was decreased in all tumor cissues and those of GT1a, GD1b and GT1b were decreased in tumors of high grade. The results suggest that the composition of gangliosides could be of considerable value in refining the classification of neuorepithelial tumors in infancy and childhood.
The ganglioside compositions of human milk, cow's milk and infant formulas were compared. The results showed that there was a drastic change in the ganglioside composition from the colostrum to later human milk, and that both the patterns and contents of gangliosides in human milk, cow's milk and infant formulas differed markedly. In human milk, the total lipid-bound sialic acid level was two times higher than those in cow's milk and infant formulas. The major ganglioside in the later human milk, GM 3 (27.7%), was only a minor component in the colostrum, cow's milk and infant formulas (3.3%, 2.8% and 0.4-2.6%, respectively). GD3 represented 49.0%, 61.0% and 72.4-86.6%, respectively, of the colostrum, cow's milk and infant formulas, compared to 31.8% of the later human milk gangliosides. The variation of the gangliosides in human and cow's milk, and infant formulas might have some biological significance regarding neonatal brain development, allergies, infant growth and non-immunoglobulin prophylactic activities against some bacterial toxins. Less