The Experience of Women in Hospital Medicine Leadership: a Qualitative Study.

BACKGROUND: Since 2017, women have made up over 50% of medical school matriculants; however, only 16% of department chairs are women-a number that has remained stagnant and demonstrates the underrepresentation of women in leadership positions in medicine. OBJECTIVE: To better understand the challenges women face in leadership positions and to inform how best to advance women leaders in Hospital Medicine. DESIGN, SETTING, AND PARTICIPANTS: Using hermeneutical phenomenological methods, we performed semi-structured qualitative interviews of ten female division heads from hospital medicine groups in the USA, transcribed verbatim, and coded for thematic saturation using Atlas.ti software. MEASUREMENTS: Qualitative themes and subthemes. KEY RESULTS: Ten women hospitalist leaders were interviewed from September through November 2019. Participants identified four key challenges in their leadership journeys: lack of support to pursue leadership training, bullying, a sense of sacrifice in order to achieve balance, and the need for internal and external validation. Participants also suggested key interventions in order to support women leaders in the future: recommending a platform to share experiences, combat bullying, advocate for themselves, and bolster each other in sponsorship and mentorship roles. Finally, participants identified how they have unique strengths as women in leadership, and are transforming the culture of medicine with a focus on diversity and flexibility. CONCLUSION: Women in leadership positions face unique challenges, but also have a unique perspective as to how to support the next generation of leaders.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. Loss of FRRS1L function attenuates AMPA-mediated currents, implicating chronic abnormalities of glutamatergic neurotransmission in this monogenic neurological disease of childhood.