11 research outputs found
Nutrition education in medical school: a time of opportunity
Undergraduate medical education has undergone significant changes in development of new curricula, new pedagogies, and new forms of assessment since the Nutrition Academic Award was launched more than a decade ago. With an emphasis on a competency-based curriculum, integrated learning, longitudinal clinical experiences, and implementation of new technology, nutrition educators have an opportunity to introduce nutrition and diet behaviorârelated learning experiences across the continuum of medical education. Innovative learning opportunities include bridging personal health and nutrition to community, public, and global health concerns; integrating nutrition into lifestyle medicine training; and using nutrition as a model for teaching the continuum of care and promoting interprofessional team-based care. Faculty development and identification of leaders to serve as champions for nutrition education continue to be a challenge
A Genetic Association Study of Serum Acute-Phase C-Reactive Protein Levels in Rheumatoid Arthritis: Implications for Clinical Interpretation
A genetic association study by Timothy Vyse and colleagues suggests that there is a significant association between CRP variants and acute-phase serum CRP concentrations in patients with rheumatoid arthritis, including those with chronic inflammation
Nutrition education in medical school: a time of opportunity
Undergraduate medical education has undergone significant changes in development of new curricula, new pedagogies, and new forms of assessment since the Nutrition Academic Award was launched more than a decade ago. With an emphasis on a competency-based curriculum, integrated learning, longitudinal clinical experiences, and implementation of new technology, nutrition educators have an opportunity to introduce nutrition and diet behaviorârelated learning experiences across the continuum of medical education. Innovative learning opportunities include bridging personal health and nutrition to community, public, and global health concerns; integrating nutrition into lifestyle medicine training; and using nutrition as a model for teaching the continuum of care and promoting interprofessional team-based care. Faculty development and identification of leaders to serve as champions for nutrition education continue to be a challenge
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.
Keywords: KMT2A; MLL1; Wiedemann-Steiner syndrome; hypertrichosis; syndromic intellectual disability; syndromic short stature.Institute for Translational Medicine and Therapeutics of the Perelman School of Medicine at the University of Pennsylvania
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Center for Advancing Translational Sciences (NCATS)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Hartwell Foundatio