3 results match your criteria: "Japan. t-yorifuji@hospital.city.osaka.jp[Affiliation]"
Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.
Clin Endocrinol (Oxf)
June 2013
Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Article Synopsis
- The study evaluates the long-term effectiveness of continuous subcutaneous octreotide infusion in treating congenital hyperinsulinism associated with specific gene mutations (KCNJ11 and ABCC8) in 15 Japanese patients who were unresponsive to diazoxide.
- Patients were monitored using genetic analysis and 18F-DOPA PET scans to assess the location of lesions, receiving octreotide via insulin pumps to maintain blood glucose levels.
- The results showed that all patients benefited from the treatment, with dosage variations based on mutation type, and it presented a viable alternative to surgery, especially for those with monoallelic mutations, with minimal adverse effects noted.
Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
J Med Genet
October 2012
Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
GATA6 haploinsufficiency has recently been reported as the most frequent cause of neonatal diabetes with pancreatic agenesis. Although all previously reported cases represented a de novo mutation with complete agenesis or pronounced hypoplasia of the pancreas, in this study we identified a family with a dominantly inherited mutation. Unlike previously reported cases, the degree of pancreatic hypoplasia and the severity of diabetes varied among members of the family, ranging from neonatally lethal diabetes with only a remnant of pancreatic tissue to adult-onset diabetes associated with dorsal agenesis of the pancreas.
View Article and Find Full Text PDFMolecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.
J Clin Endocrinol Metab
January 2011
Department of Pediatric Endocrinology and Metabolism, Osaka City General Hospital, Miyakojima, Osaka, Japan.
Background: Preoperative identification of the focal form of congenital hyperinsulinism is important for avoiding unnecessary subtotal pancreatectomy. However, neither the incidence nor the histological spectrum of the disease is known for Japanese patients.
Aims: The aim of the study was to elucidate the molecular and histological spectrum of congenital hyperinsulinism in Japan.