-
Article
Open AccessA TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia...
-
Article
Open AccessEfficacy and safety associated with the infusion speed of intravenous immunoglobulin for the treatment of Kawasaki disease: a randomized controlled trial
High-dose intravenous immunoglobulin (IVIG) is the mainstay of treatment for Kawasaki disease (KD). Usually, 2 g/kg of IVIG is administered over 10–24 h, depending on the institution or physician, but the asso...
-
Article
Open AccessSchaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be...
-
Article
Open Access6q21–22 deletion syndrome with interrupted aortic arch
Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the ...
-
Article
Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis
The Eker rat is an animal model of tuberous sclerosis caused by a mutation in the Tsc2 gene encoding a tumor suppressor protein, tuberin. According to Knudson’s two-hit theory, renal carcinomas and other tumors d...
-
Article
Mutations within the S Gene of Hepatitis B Virus Transmitted from Mothers to Babies Immunized with Hepatitis B Immune Globulin and Vaccine
ABSTRACT: A variant of hepatitis B virus (HBV) having a specific mutation within the S gene has been found to infect vaccinees. To know whether similar variants were involved in Japan, we analyzed two cases of...
