Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016-2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence-based guidelines in anticipation of disease-specific therapies.

Let's Chalk About It: Introducing the TinyTalks Curriculum, a Paradigm for Short, Virtual Chalk Talks.

ABSTRACT: In busy clinical environments, educational opportunities must be designed to accommodate learner-specific needs. Many adult learners prefer short, relevant, technology-enhanced learning. As such, electronic learning (e-learning) experiences have become a prominent part of medical education. Yet, there remain challenges to e-learning experiences in the current educational landscape. To address these challenges, the authors developed the TinyTalks paradigm, which serves as the educational foundation for the TinyTalks curriculum.The TinyTalks paradigm was developed using the existing e-learning literature and foundational principles of adult learning and related theories. The TinyTalks paradigm includes 3 ground rules: (1) all TinyTalks videos must identify a category (approach to, explanation of, or application of) to clarify the focus of the topic, (2) all TinyTalks videos must be less than 7 minutes with all material presented on one virtual chalkboard screen, and (3) all TinyTalks videos must use the hook, frame, and delivery model, which guides the creation of the video. The resulting TinyTalks curriculum is an online repository of short, chalk talk-style educational videos, developed by interdisciplinary health professionals and targeted to the level of trainees, that is available to be used flexibly by learners for just-in-time learning, flipped classroom sessions, and/or self-study.The authors used Kern's 6-step approach to curriculum development as the conceptual framework for the development and implementation of the TinyTalks curriculum at Mass General for Children (June 2021-January 2023). While developing and implementing the curriculum, the authors focused on topic selection, stakeholder recruitment, establishing a process flow, and creating a virtual home.The authors believe the TinyTalks paradigm outlines an effective educational strategy that accommodates the unique needs of both learners and teachers in the medical education setting. The next steps are to scale the TinyTalks curriculum up by expanding the content library and to evaluate its efficacy.