Joan F. Brazier

TL;DR: This study provides a robust untreated disease survival profile that can be used for comparisons now and in the future to assess changes in survival with treatments for Hutchinson-Gilford progeria syndrome.

TL;DR: Among patients with HGPS, lonafarnib monotherapy, compared with no treatment, was associated with a lower mortality rate after 2.2 years of follow-up, and the association of monotherapy using the protein farnesyltransferase inhibitor lonfarnib with mortality rate was evaluated.

TL;DR: This qualitative study examines the perspectives of representatives of US Medicare Advantage plans on how their organizations can enact programs to promote social determinants of health in light of expansions offered under the Creating High-Quality Results and Outcomes Necessary to Improve Chronic (CHRONIC) Care Act.

TL;DR: A novel form of somatic mosaicism is reported, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide—one producing severe HGPS and one mild HGPS.

TL;DR: In this article, the authors identified multiple types of regulatory classifications for each state and documented the presence or absence of specific dementia care provisions in the regulations for each type by study year.