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.

Background Hospital capacity strain impacts quality of care and hospital throughput and may also impact the well being of clinical staff and teams as well as their ability to do their job. Institutions have implemented a wide array of tactics to help manage hospital capacity strain with variable success. Objective Through qualitative interviews, our study explored interventions used to address hospital capacity strain and the perceived impact of these interventions, as well as how hospital capacity strain impacts patients, the workforce, and other institutional priorities. Design, Setting, and Participants Qualitative study utilizing semi-structured interviews at 13 large urban academic medical centers across the USA from June 21, 2019, to August 22, 2019 (pre-COVID-19). Interviews were recorded, professionally transcribed verbatim, coded, and then analyzed using a mixed inductive and deductive method at the semantic level. Main Outcome Measures Themes and subthemes of semi-structured interviews were identified. Results Twenty-nine hospitalist leaders and hospital leaders were interviewed. Across the 13 sites, a multitude of provider, care team, and institutional tactics were implemented with perceived variable success. While there was some agreement between hospitalist leaders and hospital leaders, there was also some disagreement about the perceived successes of the various tactics deployed. We found three main themes: (1) hospital capacity strain is complex and difficult to predict, (2) the interventions that were perceived to have worked the best when facing strain were to ensure appropriate resources; however, less costly solutions were often deployed and this may lead to unanticipated negative consequences, and (3) hospital capacity strain and the tactics deployed may negatively impact the workforce and can lead to conflict. Conclusions While institutions have employed many different tactics to manage hospital capacity strain and see this as a priority, tactics seen as having the highest yield are often not the first employed. Supplementary Information The online version contains supplementary material available at 10.1007/s11606-021-07106-8.

Background The Coronavirus Disease 2019 (COVID-19) caused unprecedented challenges within medical centers, revealing inequities embedded in the medical community and exposing fragile social support systems. While faculty and staff faced extraordinary demands in workplace duties, personal responsibilities also increased. The goal of this study was to understand the impact of the COVID-19 pandemic on personal and professional activities of faculty and staff in order to illuminate current challenges and explore solutions. Methods Qualitative, semi-structured group interviews involved faculty and staff at four affiliate sites within the Department of Medicine at the University of Colorado, School of Medicine. Focus groups addressed the impact of COVID-19 on (1) Changes to roles and responsibilities at work and at home, (2) Resources utilized to manage these changes and, (3) Potential strategies for how the Department could assist faculty and staff. Thematic analysis was conducted using an inductive method at the semantic level to form themes and subthemes. Results Qualitative analysis of focus group transcripts revealed themes of: (1) Challenges and disparities experienced during the pandemic, (2) Disproportionate impact on women personally and professionally, (3) Institutional factors that contributed to wellness and burnout, and (4) Solutions and strategies to support faculty and staff. Within each of these themes were multiple subthemes including increased professional and personal demands, concern for personal safety, a sense of internal guilt, financial uncertainty, missed professional opportunities, and a negative impact on mentoring. Solutions were offered and included an emphasis on addressing preexisting inequities, the importance of community, and workplace flexibility. Conclusions The COVID-19 pandemic created burdens for already challenged faculty and staff in both their personal and professional lives. Swift action and advocacy by academic institutions is needed to support the lives and careers of our colleagues now and in the future.

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