Publications by authors named "Johanne Uthus Hermansen"
Article Synopsis
- Aagenaes syndrome is an autosomal recessive condition that includes symptoms like neonatal cholestasis, lymphedema, and giant cell hepatitis, with its genetic cause previously unknown.
- Researchers studied 26 patients and their parents using techniques like whole-genome sequencing and CRISPR to pinpoint genetic variants affecting the disease.
- The study identified a specific variant (c.-98G>T) in the UNC45A gene present in all patients, indicating it as the genetic cause of Aagenaes syndrome, and showed reduced expression of the UNC45A protein in affected individuals.
Background: Skin emollients applied during early infancy could prevent atopic dermatitis, and early complementary food introduction might reduce food allergy in high-risk infants. The study aimed to determine if either regular skin emollients applied from 2 weeks of age, or early complementary feeding introduced between 12 and 16 weeks of age, reduced development of atopic dermatitis by age 12 months in the general infant population.
Methods: This population-based 2×2 factorial, randomised clinical trial was done at Oslo University Hospital and Østfold Hospital Trust, Oslo, Norway; and Karolinska University Hospital, Stockholm, Sweden.