32 results match your criteria: "Takasago-seibu Hospital[Affiliation]"

Background: In rare cases, patients with Langerhans cell histiocytosis (LCH) develop neurodegenerative CNS disease (ND-CNS-LCH). Management of ND-CNS-LCH has not been established.

Methods: We treated five pediatric patients with a combination of intravenous immunoglobulin (IVIG) and chemotherapy (steroid +/- vinblastine +/- 6-mercaptopurine +/- methotrexate).

View Article and Find Full Text PDF

Although mutations of perforin, MUNC13-4 and syntaxin 11 genes have been found in children with familial hemophagocytic lymphohistiocytosis (FHL), the incidence of each genetic subtype varies in different ethnic groups. We evaluated mutations of syntaxin 11 and SNAP23 genes in 30 Japanese FHL patients. The patients had no mutations and 10% had one polymorphism (146G>A) of syntaxin 11, while no mutation of SNAP23 was observed.

View Article and Find Full Text PDF
Article Synopsis
  • A 26-year-old man with idiopathic hypereosinophilic syndrome (HES) was treated with imatinib mesylate after five years on prednisolone, displaying symptoms like eosinophilia and eosinophilic vasculitis.
  • Despite an initial positive response to a 100 mg/day dosage of imatinib, the condition recurred after 8 weeks, leading to a temporary effectiveness at 200 mg/day.
  • Molecular studies showed no detectable fusion genes or mutations commonly associated with HES, highlighting the need for further research into the exact mechanisms of imatinib's effectiveness in such cases.
View Article and Find Full Text PDF

Unlabelled: We analysed data of 96 infants (under 1 year of age) with haemophagocytic lymphohistiocytosis (HLH) from the registry of an HLH study conducted during 1986-2002 in Japan. The cases were classified into five groups. The diagnosis of familial HLH (FHL) as group 1 (n = 27) was made with positive family history and/or recent molecular test for perforin and Munc13-4 mutations.

View Article and Find Full Text PDF