152 research outputs found

    Characteristics of Academic Anesthesiologist’s Elected to an Institutional Academy of Master Educators

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    Background. The educational experience and success of academic anesthesiologists may be elusive to quantify. We wished to examine the characteristics of a cohort of anesthesiology faculty who were inducted into a medical school master educator academy over the last decade. Methods. After IRB approval with waiver of consent, all 10 anesthesiology faculty inductees into the academy supplied relevant data for their accomplishments at the time of induction in multiple educational domains, including teaching and assessment, mentoring and advising, evidence of scholarship and production of enduring materials, and educational leadership. These were deidentified and analyzed. Results. The cohort had evidence of a consistent, visible footprint in the department, medical school, affiliated associations and state and national professional organizations. These included educational leadership positions, numerous teaching recognition and awards, substantial committee service, active mentorship exceeding usual faculty effort and robust portfolios of publications and presentations related to teaching and/or incorporating and supporting mentees as co-authors. Neither time in rank or academic progress was a limitation with several achieving induction in \u3c 5 years. Conclusions. It is possible for full-time anesthesiology clinicians to achieve success in educational recognition within the medical school body. This summary of characteristics of one department’s cohort may be useful to others seeking such recognition and serve. Based on the aggregate findings, we make recommendations for faculty wishing to pursue excellence in education

    Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

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    We describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who presented with microcephaly, developmental delay, and refractory epilepsy with a de novo p.Ala47Thr missense variant in the protein phosphatase gene, PPP5C. This gene has not previously been associated with a Mendelian disease, and based on the population database, gnomAD, the gene has a low tolerance for loss-of-function variants (pLI = 1, o/e = 0.07). We functionally evaluated the PPP5C variant in C. elegans by knocking the variant into the orthologous gene, pph-5, at the corresponding residue, Ala48Thr. We employed assays in three different biological processes where pph-5 was known to function through opposing the activity of genes, mec-15 and sep-1. We demonstrated that, in contrast to control animals, the pph-5 Ala48Thr variant suppresses the neurite growth phenotype and the GABA signaling defects of mec-15 mutants, and the embryonic lethality of sep-1 mutants. The Ala48Thr variant did not display dominance and behaved similarly to the reference pph-5 null, indicating that the variant is likely a strong hypomorph or complete loss-of-function. We conclude that pph-5 Ala48Thr is damaging in C. elegans. By extension in the proband, PPP5C p.Ala47Thr is likely damaging, the de novo dominant presentation is consistent with haplo-insufficiency, and the PPP5C variant is likely responsible for one or more of the proband\u27s phenotypes
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