Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that presents with uncontrolled hyperglycemia during the first 6 months of life. NDM is a rare disease in which gene variants mainly cause β-cell loss or dysfunction (6q24 duplication, , and ). Although NDM is primarily treated through insulin therapy, it is highly challenging to manage blood glucose levels using insulin therapy during infancy.
View Article and Find Full Text PDFBackground: 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.
Context: Craniotabes in otherwise normal neonates has been regarded as physiological and left untreated.
Objective: Our objective was to investigate the role of vitamin D deficiency in the development of craniotabes in normal neonates.
Design And Setting: Newborn screening of craniotabes was conducted at the single largest obstetrical facility in Kyoto, Japan.