A parent-led, patient-centered medical home model instruction for interprofessional undergraduate and graduate learning opportunities.

INTRODUCTION: Despite national efforts to establish patient-centered medical homes (PCMH), 57.3% of children with special health care needs are receiving care that does not meet medical home criteria. Project DOCC, a national curriculum designed by parents of children with disabilities or chronic disease, has shown documented strengths in medical resident learner education of children with special health care needs from the parent perspectives for over a decade. Because of the importance of PCMH and the need to provide compassionate care, our team adapted the curriculum to incorporate team-based learning in the rural setting. MATERIALS AND METHODS: Reading materials were distributed to learners prior to an in-person workshop at which time, learners reviewed a video and discussed PCMH materials to identify elements of the PCMH. Learners then engaged with parent mentors across three breakout sessions. A final group reflection was completed to review and discuss efforts providers would take to establish and maintain the PCMH in their own practice. Baseline and post-workshop PCMH perceptions and parent mentor reflections were collected and compared using t-test comparisons. RESULTS: Learner knowledge, perceptions, and comfort significantly increased after the workshop. Parent mentor comments also highlighted an increased understanding for the provider. Discussion: The adapted PCMH curriculum significantly impacted learner outcomes using a feasible approach that fit nicely within health professional curricula and limited resources of the rural setting. Parents enjoyed the opportunity to serve as mentors and valued the instruction format.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 11 unrelated subjects. Notably, only two breakpoint junctions were generated during each rearrangement formation. All the complex rearrangement products share a common genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the triplicated segment is inverted and located between directly oriented duplicated genomic segments. We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by >300 kb, a genomic architecture that apparently leads to susceptibility to such complex rearrangements. A similar inverted repeat-mediated mechanism may underlie structural variation in many other regions of the human genome. We propose a mechanism that involves both homology-driven events, via inverted repeats, and microhomologous or nonhomologous events.