Publications by authors named "J E Kremen"
Purpose: To understand the rate of, and reasons for, discontinuation of gender-affirming hormones (GAH) in transgender adolescents.
Methods: Retrospective cohort study of individuals starting GAH between January 2007 and December 2022. Individuals were included if they were diagnosed with gender dysphoria, were prescribed GAH, and took GAH continuously for a minimum of 6 months.
Article Synopsis
- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
Objectives: The study aimed to evaluate adult endocrinologists' perspectives on caring for patients with congenital adrenal hyperplasia (CAH) and views on their transition from pediatric to adult care.
Methods: An online survey was conducted among adult clinical endocrinologists at Harvard Medical School-affiliated hospitals from March to October 2022.
Results: Most participants (25/34, 73.
Infections with D. dendriticum are distributed worldwide and mostly associated with ruminant livestock. Depending on the length and strength of the infection it can be manifested with losses in milk production, reductions in milk and wool quality, decreased weight gains, reproductive performance and poor carcass quality.
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