Conducting inclusive research in genetics for transgender, gender-diverse, and sex-diverse individuals: Case analyses and recommendations from a clinical genomics study.

A person's phenotypic sex (i.e., endogenous expression of primary, secondary, and endocrinological sex characteristics) can impact crucial aspects of genetic assessment and resulting clinical care recommendations. In studies with genetics components, it is critical to collect phenotypic sex, information about current organ/tissue inventory and hormonal milieu, and gender identity. If researchers do not carefully construct data models, transgender, gender diverse, and sex diverse (TGSD) individuals may be given inappropriate care recommendations and/or be subjected to misgendering, inflicting medical and psychosocial harms. The recognized need for an inclusive care experience should not be limited to clinical practice but should extend to the research setting, where researchers must build an inclusive experience for TGSD participants. Here, we review three TGSD participants in the Family History and Cancer Risk Study (FOREST) to critically evaluate sex- and gender-related survey measures and associated data models in a study seeking to identify patients at risk for hereditary cancer syndromes. Furthermore, we leverage these participants' responses to sex- and gender identity-related questions in FOREST to inform needed changes to the FOREST data model and to make recommendations for TGSD-inclusive genetics research design, data models, and processes.

A Retrospective Review of an Inhaler to Nebulizer Therapeutic Interchange Program Across a Health System.

Background: The hospitals of the Saint Alphonsus Health System (SAHS) have implemented a metered dose inhaler (MDI) to nebulization therapeutic interchange program in which all orders for albuterol/ipratropium and inhaled corticosteroid/long-acting beta agonists (ICS/LABA) MDIs are therapeutically interchanged to nebulizers by pharmacy. Objectives: The primary outcome measure is to assess the percent of albuterol/ipratropium and ICS/LABA inhalers therapeutically interchanged to nebulized solutions. Secondary outcomes include assessment of readmission rates, the percentage of patients discharged with the appropriate MDI, and a financial analysis of the implementation of the therapeutic interchange program. Methods: This retrospective observational cohort study was approved by the system's institutional review board and conducted between October 15, 2019, and February 15, 2020. Adult patients with history of asthma or COPD admitted to one of the SAHS hosptials with an order placed for ipratropium/albuterol, fluticasone/salmeterol, mometasone/formoterol, or budesonide/formoterol MDIs were eligible for inclusion. Patients were excluded if they were presumed to have or tested positive for COVID-19. Results: Therapeutic interchanges were successfully completed in 94.3% of the orders included in this evaluation. Discharge discrepancies occurred in 14.3% of orders assessed. No correlation was found between discharge discrepancies and 30-day readmissions. The MDI to nebulized solution interchanges saved $13,908.16 in medication cost in the sample population. Conclusion: The first phase of implementing the SAHS inhaler to nebulizer therapeutic interchange program was operationally and clinically successful. The program is projected to continue to reduce medication waste and provide cost savings for the health system.

Patient Reflections on Individual Music Therapy for a Major Depressive Disorder or Acute Phase Schizophrenia Spectrum Disorder.

Reflections of patients have not been studied qualitatively after a completed course of individual music therapy for a major depressive disorder (MDD) or an acute phase of a schizophrenia spectrum disorder (SSD). Our interpretivist study explored patient reflections through individual interviews with 15 hospitalized patients after a completed course of eight individual music therapy sessions that were flexibly structured in blended fashion utilizing a set of active and receptive music therapy methods. Our analyses yielded 8 themes, supported by 23 subthemes. These themes were grouped into three domains, capturing respectively participants' praise for music therapy, the distress from which change emerged, and various perceived gains. Participants cast the perceived gains from music therapy in the wake of their distress. The domain of distress comprised two themes: distress before and during therapy, and a process of opening up and dealing with old wounds. The themes expressing their gains were: new perspectives, growing strong, emotional fulfillment, becoming socially closer and more adept, and becoming liberated and creatively inspired. These client perspectives on a completed course of music therapy augment the evidence base established in clinician terms of what matters as a potential gain from music therapy. These perspectives, furthermore, inform on the gains and the distress from which gains emerged, congruent with a strengths-oriented therapeutic pursuit in music therapy for an MDD or an acute phase of SSD. Music therapists in similar settings may draw on these perspectives in the planning and strengthening of a course of music therapy.

The interrelationship between concepts about agency and students' use of teachable-agent learning technology.

To successfully interact with software agents, people must call upon basic concepts about goals and intentionality and strategically deploy these concepts in a range of circumstances where specific entailments may or may not apply. We hypothesize that people who can effectively deploy agency concepts in new situations will be more effective in interactions with software agents. Further, we posit that interacting with a software agent can itself refine a person's deployment of agency concepts. We investigated this reciprocal relationship in one particularly important context: the classroom. In three experiments we examined connections between middle school students' concepts about agency and their success learning from a teachable-agent-based computer system called "Betty's Brain". We found that the students who made more intentional behavioral predictions about humans learned more effectively from the system. We also found that students who used the Betty's Brain system distinguished human behavior from machine behavior more strongly than students who did not. We conclude that the ability to effectively deploy agency concepts both supports, and is refined by, interactions with software agents.

Loss of sustained activity in the ventromedial prefrontal cortex in response to repeated stress in individuals with early-life emotional abuse: implications for depression vulnerability.

Repeated psychosocial stress in early-life has significant impact on both behavior and neural function which, together, increase vulnerability to depression. However, neural mechanisms related to repeated stress remain unclear. We hypothesize that early-life stress may result in a reduced capacity for cognitive control in response to a repeated stressor, particularly in individuals who developed maladaptive emotional processing strategies, namely trait rumination. Individuals who encountered early-life stress but have adaptive emotional processing, namely trait mindfulness, may demonstrate an opposite pattern. Using a mental arithmetic task to induce mild stress and a mindful breathing task to induce a mindful state, we tested this hypothesis by examining blood perfusion changes over time in healthy young men. We found that subjects with early-life stress, particularly emotional abuse, failed to sustain neural activation in the orbitofrontal and ventromedial prefrontal cortex (vmPFC) over time. Given that the vmPFC is known to regulate amygdala activity during emotional processing, we subsequently compared the perfusion in the vmPFC and the amygdala in depression-vulnerable (having early-life stress and high in rumination) and resilient (having early-life stress and high in mindfulness) subjects. We found that depression-vulnerable subjects had increased amygdala perfusion and reduced vmPFC perfusion during the later runs than that during the earlier stressful task runs. In contrast, depression-resilient individuals showed the reverse pattern. Our results indicate that the vmPFC of depression-vulnerable subjects may have a limited capacity to inhibit amygdala activation to repeated stress over time, whereas the vmPFC in resilient individuals may adapt to stress quickly. This pilot study warrants future investigation to clarify the stress-related neural activity pattern dynamically to identify depression vulnerability at an individual level.

Psychological and neural mechanisms of trait mindfulness in reducing depression vulnerability.

Mindfulness-based interventions are effective for reducing depressive symptoms. However, the psychological and neural mechanisms are unclear. This study examined which facets of trait mindfulness offer protection against negative bias and rumination, which are key risk factors for depression. Nineteen male volunteers completed a 2-day functional magnetic resonance imaging study. One day utilized a stress-induction task and the other day utilized a mindful breathing task. An emotional inhibition task was used to measure neural and behavioral changes related to state negative bias, defined by poorer performance in inhibiting negative relative to neutral stimuli. Associations among trait mindfulness [measured by the Five Facet Mindfulness Questionnaire (FFMQ)], trait rumination, and negative bias were examined. Non-reactivity scores on the FFMQ correlated negatively with rumination and negative bias following the stress induction. Non-reactivity was inversely correlated with insula activation during inhibition to negative stimuli after the mindful breathing task. Our results suggest non-reactivity to inner experience is the key facet of mindfulness that protects individuals from psychological risk for depression. Based on these results, mindfulness could reduce vulnerability to depression in at least two ways: (i) by buffering against trait rumination and negative bias and (ii) by reducing automatic emotional responding via the insula.