Promoter Identification and Transcription Analysis of Penicillin-Binding Protein Genes in Streptococcus pneumoniae R6.

Penicillin-binding proteins (PBPs) are membrane-associated enzymes, which are involved in the last two steps of peptidoglycan biosynthesis, and some of them are key players in cell division. Furthermore, they are targets of β-lactams, the most widely used antibiotics. Nevertheless, very little is known about the expression and regulation of PBP genes.

New GAA mutations in Japanese patients with GSDII (Pompe disease).

Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. The GAA gene, responsible for this disease, has been mapped to chromosome 17q25.2-25.

Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by development of unusual tumor-like growths. Involvement of the brain is associated with the most problematic clinical manifestations of TSC, including intellectual retardation, epilepsy and abnormal behaviors. Until now, over 300 mutations of TSC1 and TSC2 were reported.

Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy.

Forced normalization (FN) is a well known phenomenon of acute psychosis accompanying seizure control. An 11-year-old boy with intractable myoclonic epilepsy and severe psychomotor delay experienced FN during medication of ethosuximide. Although his myoclonic seizures were completely controlled, behavioral changes, more of the manic type, became evident.