hrp0086rfc1.4 | Adrenals | ESPE2016

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Vu Dung , Nguyen Ngoc Khanh , Nguyen Thu Ha , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Phu Dat , Shimozawa Nobuyuki

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

hrp0092rfc1.1 | Diabetes and Insulin Session 1 | ESPE2019

Low Prevalence of Maternal Microchimerism in Japanese Children with Type 1 Diabetes

Ushijima Kikumi , Kikuchi Nobuyuki , Kikuchi Toru , Kawamura Tomoyuki , Urakami Tatsuhiko , Amemiya Shin , Ogata Tsutomu , Yokota Ichiro , Sugihara Shigetaka , Fukami Maki

Background: Vertical transfer of maternal cells to the fetus via the placenta leads to maternal microchimerism (MMc) in children. Previous studies from USA have shown that the prevalence and degree of MMc was significantly higher in patients with type 1 diabetes (T1D) than in their unaffected siblings and control individuals. To date, however, the frequency of MMc in non-Caucasian T1D patients remains to be examined.Methods</stro...