Daniel Clemente

TL;DR: 12 specific recommendations for YP with jRMD focused on transitional care included: high-quality, multidisciplinary care starting in early adolescence; the integral role of a transition co-ordinator; transition policies and protocols; efficient communications; transfer documentation.

TL;DR: The findings identify the novel p.D303H NLRP3 variant in a Spanish patient with CINCA/NOMID as a new disease-causing mutation, which was detected as a somatic, nongermline mutation in hematopoietic and nonhematopoetic cell lineages.

TL;DR: Already models of transitional care in rheumatic and musculoskeletal diseases (RMD) are identified, their strengths and weaknesses are described, and support to a consensus initiative to develop recommendations for transitional care is provided.

TL;DR: This study represents the largest performed to date to investigate mosaicism in patients with PIDs, revealing that it affects approximately 25% of enrolled families and reinforcing the use of next‐generation sequencing–based methods in the routine analyses of PIDs.

TL;DR: This survey of European pediatric rheumatology providers regarding transitional care practices demonstrates agreement that transitional care is important, and wide variation in current provision of transition services exists.