Baystate Health

Congenital bile acid synthesis defects (BASD), the most common of which is 3β-hydroxy-Δ5-C27-steroid dehydrogenase oxidoreductase (3β-HSD7) deficiency, are a rare cause of fat-soluble vitamin malabsorption. We describe a 14-year-old girl who presented at 14 months with a left distal femur fracture and failure to thrive. It was not until 13 years of age that after several hospitalizations for bleeding and severe vitamin K deficiency, the patient was ultimately diagnosed with 3β-HSD7 deficiency. We also describe the case of an adolescent girl who was referred for treatment of Hepatitis C (HCV) and diagnosed with 3β-HSD7 deficiency after she failed to respond to therapy as expected. Finally, we review the diagnosis of BASD and highlight the challenges involved in our clinical cases. These cases demonstrate the importance of maintaining a broad differential when evaluating any patient with unexplained fat-soluble vitamin deficiencies and represent unique presentations of 3β-HSD7 deficiency in adolescent patients.

Patients, particularly those at the end of their lives, frequently receive goal-discordant care, and their surrogate decision-makers suffer long-term psychological injury. Contributors to these issues may include infrequent communication between clinicians and surrogates, failure to discuss prognosis, values, and treatment options that include comfort-focused care, and surrogates facing high-stakes decision-making while underprepared and overwhelmed psychologically and emotionally. This is a multicenter, patient-randomized efficacy trial of a multi-component intervention, versus usual care, for 370 incapacitated, critically ill adults at high risk of death or severe disability, and their surrogate decision-makers, from 7 hospitals across the United States. The intervention combines surrogate utilization of a digital Family Support Tool (FST) in real-time during their loved one's hospitalization with proactively scheduled family meetings, for which both surrogates and clinicians receive additional preparation, at set intervals during the ICU hospitalization. Those in the control arm will receive usual ICU care. Our primary outcome is patient-centeredness of care, measured using the modified Patient Perceived Patient-Centeredness of Care (PPPC) scale. Secondary outcomes include surrogates' psychological symptom burden, communication and decision quality, and patients' health resource utilization and clinical outcomes. This trial will provide robust evidence about the impact of combining the FST with increased and intentional communication, on patient, family, and health system outcomes for those hospitalized in the ICU.

The biopsychosocial model for providing holistic care after traumatic injury requires consideration of the social factors that influence health outcomes in addition to management of physical wounds. Social drivers of health (SDOH) such as interpersonal safety, food insecurity, housing instability, transportation needs, and utility needs comprise the five domains that the Centers for Medicare and Medicaid Services now require hospitals to screen for. In this article, we will (1) describe the impact of SDOH on injuries and outcomes in trauma patients, (2) describe the value and importance of screening, and (3) provide examples of effective and impactful interventions trauma centers have or may use to improve SDOH in the communities they serve. Through collaboration and intentionality, screening for SDOH can occur at trauma centers, near and far, and serve as a critical step to integrating social care into trauma care.

Introduction: Pediatric extra-corporeal membrane oxygenation (ECMO) is an advanced therapy offered by few centers. Often, patients with severe cardiopulmonary failure undergo urgent transfer from pediatric intensive care units (PICUs) to an ECMO center for potential cannulation. Given the risks associated with ECMO and transport, it is crucial to identify patients most likely to benefit from transfer and ECMO support. Our objective was to determine the rates of and factors contributing to receipt of ECMO and survival of children urgently transferred to an ECMO center. Methods: We performed a multicenter retrospective cohort study of patients 0-18 years referred by 5 PICUs to a pediatric ECMO center in the U.S. Northeast from 2013-2022. We excluded patients already on ECMO at referral and those referred for procedures needing ECMO back-up (not imminently requiring support). Patients’ records were linked across referring PICUs and the ECMO center. We collected demographic data, referral/transfer characteristics, clinical data at various timepoints, and patient outcomes. Results: Preliminary results from completed reviews of 37 records showed that 36 (97%) referred patients were transferred to the ECMO center. One patient did not transfer due to clinical improvement. Mean referral time from PICU admission was 2.3 (SD 3.2) days and transfer occurred at a median of 6.5 (IQR 4.9, 8.6) hours from initial referral. Eight (22%) patients were cannulated onto ECMO at a median of 8.4 (IQR 4.4, 13.9) hours from ECMO center admission. Six (17%) patients died, all after transfer to the ECMO center, including 4 (50%) patients placed on ECMO. Unadjusted analysis showed that patients who received ECMO support were older (median 1.5 vs. 0.5 years), and at transfer, were more severely ill (median PRISM-III score 19.5 vs. 9) with greater life support needs (median OI 12.1 vs. 8.9 and median VIS 10 vs. 7.5). Conclusions: In a regional pediatric ECMO referral network, 22% of referred patients subsequently received ECMO support, with a 17% mortality rate among all referred patients. Factors associated with ECMO cannulation will be determined using cluster analysis once data for the entire cohort is complete. Findings can potentially inform ECMO referral and transfer practices across a referral network.

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms typically arising from the gastrointestinal tract, most often in the stomach or small intestine. Primary pancreatic GIST is exceedingly rare, with fewer than 50 cases reported in the literature. We present a unique case of a 77-year-old female who was found to have a 6.5 cm complex mass in the left abdomen with inconclusive imaging findings. Endoscopic ultrasound (EUS) further characterized the lesion as a mixed solid and cystic mass with peripheral enhancement, but its origin remained uncertain. Pathology revealed a spindle cell type GIST. Given the diagnostic ambiguity, the patient underwent diagnostic laparoscopy, which definitively identified the mass as originating from the pancreatic tail, confirming the rare diagnosis of primary pancreatic GIST. Despite recommendations for surgical resection or treatment with imatinib, the patient declined both and chose to pursue close surveillance. The patient's clinical condition remained stable one year after initial diagnosis. This case underscores the importance of including pancreatic GIST in the differential diagnosis of atypical pancreatic masses, especially those with mixed solid and cystic components. It also highlights the role of EUS as well as laparoscopy in resolving diagnostic uncertainty for complex abdominal masses. Further studies are needed to better understand the natural history and optimal management of low-risk, asymptomatic pancreatic GISTs. This case also highlights the importance of shared decision-making in the management of conditions where guidelines are not well-developed.

The persistent incidence of HIV among people who inject drugs (PWID) underscores the urgency for HIV prevention efforts to end the HIV epidemic. Little is known about the role carceral settings play as touchpoints for HIV testing in this population. The objectives of this study were to characterize patterns and sources of HIV testing among PWID and to understand how carceral facilities fit into this population’s HIV testing landscape. Secondary analysis of cross-sectional survey data of PWID in the Boston metro area from the 2015 and 2018 cycles of the National HIV Behavioral Surveillance (NHBS). Among self-reported HIV-negative participants, we examined incarceration and HIV testing histories and used a multivariable modified Poisson regression model to evaluate the association between incarceration history (main exposure) and past-year HIV testing (primary outcome). Among 957 participants, average age was 38.9 (SD 11.1) years, 70.1% were male, 15.2% were Hispanic (of any race), 8.4% were non-Hispanic Black, and 68.1% were non-Hispanic White. Regarding incarceration experiences, 43.5% of participants reported past-year incarceration, and 41.8% reported a history of incarceration but only prior to the past year. Among those with past-year incarceration, 23.4% said their last HIV test was done at a jail or prison. Adjusting for other characteristics, compared to no incarceration history, past-year incarceration (PR 1.39; 95% CI: 1.29, 1.49) and incarceration prior to the past year (PR 1.19; 95%CI: 1.02, 1.38) were both associated with a greater prevalence of past-year HIV testing. Among PWID, incarceration was very common and was a substantial source of HIV testing. However, more testing is still needed—in both community and carceral settings—to reach optimal testing rates in this key population.

<title>Abstract</title> <bold>Purpose</bold> : Humor is crucial for stress management and team dynamics among medical professionals. While positive humor aids with stress coping, little is known about how humor styles evolve during residency or relate to burnout. This study examines the prevalence of four humor styles (affiliative, self-enhancing, aggressive, and self-defeating) among residents and correlation with burnout. <bold>Methods</bold> : This study surveyed residents from eleven specialties at a single institution. In the first month of the academic year, residents completed surveys using the Short Work-related Humor Styles Questionnaire (Sw-HSQ) and Burnout Assessment Tool (BAT). Demographic data, specialty, and training level were collected. Descriptive analysis, Student’s t-test, and Pearson’s correlation were used to assess humor style prevalence, changes, and burnout associations. <bold>Results</bold> : A total of 107 residents completed the survey. No significant differences in humor styles or burnout scores were found by training year, preliminary status, or prior career experience. There was no correlation between age and humor style (p=0.24). Male residents had higher positive humor scores (p=0.002). Female residents had higher burnout scores (p=0.016). Residents with clinical training interruptions adopted more positive humor (p=0.01). Overall, there was a significant correlation between greater positive humor style use and lower burnout scores (r=-0.22, p=0.026). <bold>Conclusion</bold> : This study establishes a small but significant correlation between higher positive humor scores and lower burnout scores. Although these findings require validation in larger cohorts, preliminary findings offer insight into the protective effects of positive humor against burnout in general surgery training.

Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality and morbidity among US adults, including recurrent emergency department (ED) visits and unplanned hospital admissions. Despite this, the transition of care (TOC) from the inpatient to outpatient setting remains under-studied. The objectives of the Reduce Respiratory Emergent Visits using Implementation Science Interventions Tailored to Setting (Reduce REVISITS) study are to conduct contextual assessments to inform implementation plans for COPD TOC interventions, conduct a cluster randomized trial evaluating implementation over 1 year of COPD TOC bundles, and monitor sustainment of implementation over a 2-year period across 20 sites. This pragmatic, multisite study uses a hybrid type II effectiveness-implementation design to evaluate clinical and implementation outcomes of COPD TOC programs across 20 sites. Sites are cluster-randomized to 1 of 4 intervention groups, varying by program delivery method (in-person vs virtual) and implementation strategy (mentored implementation with or without co-design). Sites select evidence-based interventions they wish to incorporate into their COPD TOC program and are randomized to in-person or virtual delivery. During the 1-year active implementation period of the study, assigned mentors will meet monthly with sites (for a total of 12 sessions) to enable on-the-ground troubleshooting of site-specific difficulties with TOC interventions. The primary effectiveness outcome for this study will be COPD-specific acute health care use, defined as a composite of all ED visits and hospitalizations within 30 days of index hospitalization for a COPD exacerbation. The primary implementation outcome will be reach, defined as the proportion of patients receiving their assigned TOC interventions (the whole bundle). As of August 2025, 21 sites completed the contextual assessments and developed site-specific implementation plans. Publication of the qualitative data from this pre-implementation phase is anticipated in December 2025. Site randomization is complete; sites randomized to co-design have completed 3 sessions. Baseline data collection on use is complete. Implementation-year data collection on use is nearly complete. Year 1 and 2 post-implementation-phase data collection on use is ongoing. Quantitative data analyses of the baseline and implementation-phase reports are nearly complete. Manuscript submission for the primary implementation-phase manuscript is anticipated for December 2025. Manuscript submission for the implementation-sustainment analyses are anticipated for September 2026. Qualitative data collection for year 1 of the post-implementation phase is complete, and analysis is under way. Qualitative data collection for year 2 began in August 2025. The Reduce REVISITS study will use novel integrated implementation science and human-centered design methodology to investigate bundles of effective COPD TOC interventions with the goal of reducing COPD hospital revisits. The study will evaluate evidence-based programs for effectiveness and implementation across a wide variety of health care sites to ultimately improve outcomes in this high-risk patient population. ClinicalTrials.gov NCT05568043; https://clinicaltrials.gov/study/NCT05568043. DERR1-10.2196/82043.