Citations

ABSTRACT Genetic counselors describe their professional identity as who they are (personal characteristics and attributes), what they do (actions and skills), and what they possess (training and knowledge). A shared multidimensional perspective highlights the transferability of their skills across diverse roles and settings. This qualitative study aimed to identify factors that influence genetic counselors' perceptions and formation of their professional identities. Using Social Identity Theory as a theoretical framework, semi‐structured recorded interviews were conducted with 50 genetic counselors who were purposefully sampled to ensure diversity of personal demographics (gender, race/ethnicity, sexual orientation, disability, and caregiver status), as well as years, settings, and roles in genetic counseling practice. Transcripts were coded and subjected to codebook thematic analysis using NVivo. Professional identity was influenced by internal validation (sense of purpose in work, pride, and confidence), external validation (from other colleagues, work system, degree of autonomy, and patients), one's personal identities (demographics, life experiences, and persona), and connections with others (professional network, peer support, role models, and giving back). Alignment and misalignment of these factors and the perceived collective identity of the profession impacted genetic counselors' sense of belonging to the profession both positively and negatively, respectively. Continued efforts to diversify the profession, as well as expanded opportunities for genetic counselors to work in new settings and roles, require critical reflection and discussion about the collective identity of the genetic counseling profession. The findings of this study can inform the recruitment, training, credentialing, continuing education, and retention of genetic counselors to ensure that genetic counselors, regardless of their personal identities or their work roles or settings, develop and maintain a sense of belonging and commitment to the profession and its values. In turn, the support of professional identity formation can positively impact genetic counselors' job satisfaction, competency, and delivery of healthcare to their patients and the populations they serve.

Importance Elevated low-density lipoprotein cholesterol (LDL-C) is a modifiable risk factor for cardiovascular disease, the leading cause of premature death worldwide. Assessing the LDL-C–related burden is critical for guiding prevention and treatment strategies. Objectives To estimate the global, regional, and national burden of ischemic heart disease and ischemic stroke attributable to elevated LDL-C (relative to 35-54 mg/dL) from 1990 to 2023 and to quantify the contributions of population growth, aging, risk-deleted burden, and exposure changes to burden trends. Design, Setting, and Population This comparative risk assessment, part of the Global Burden of Disease Study 2023, estimated population-level LDL-C exposure and associated health loss in 204 countries and territories. Mean LDL-C levels were estimated using spatiotemporal gaussian process regression based on 806 studies across 161 countries. Relative risks were derived from meta-analyses of 38 randomized clinical trials. Population-attributable fractions for deaths and disability-adjusted life-years (DALYs) were estimated by age and sex for adults aged 25 years or older from 1990 to 2023, with 95% uncertainty intervals. Exposure Population-level LDL-C concentrations. Main Outcomes and Measures Population-attributable fractions, counts, and rates (all ages and age standardized per 100 000) of LDL-C–attributable deaths and DALYs from ischemic heart disease and ischemic stroke, with uncertainty intervals. Results In 2023, elevated LDL-C accounted for 3.6 million deaths (95% uncertainty interval, 2.2-5.4 million; 6.0% of global mortality) and 90.7 million DALYs (95% uncertainty interval, 58.9-123.3 million; 3.2% of DALYs). Although global all-ages rates remained stable, age-standardized death and DALY rates decreased by 45.6% and 39.5%, respectively, since 1990. In 2023, age-standardized LDL-C–attributable DALY rates were highest in Eastern Europe and lowest in high-income Asia-Pacific. One-third of the global LDL-C burden occurred in India and China. Population growth and aging drove the increasing burden, with notable regional disparities in LDL-C exposure and risk-deleted DALY rates shifting toward middle-sociodemographic settings. Conclusions and Relevance Despite declining age-standardized rates, the absolute LDL-C burden has increased since 1990 due to demographic changes and has shifted toward middle-sociodemographic countries. Measurement and surveillance gaps persist. Strengthened prevention, diagnosis, and treatment access strategies are essential to mitigate the health burden of LDL-C.

Pulmonary developmental disorders comprise a heterogeneous group of congenital abnormalities involving the airways, lung parenchyma, pulmonary vasculature, or overlapping developmental pathways. Although these conditions commonly present during infancy or childhood, many remain clinically silent until adulthood, when they are discovered incidentally or manifest with recurrent respiratory symptoms such as infection, hemoptysis, or progressive dyspnea. These abnormalities may be broadly categorized into airway, vascular, parenchymal, and mixed developmental anomalies. Airway abnormalities include congenital tracheobronchomegaly, branching anomalies of the tracheobronchial tree, bronchial atresia, bronchogenic cysts, congenital pulmonary airway malformations (CPAM), and bronchopulmonary sequestration (BPS). Vascular anomalies include pulmonary artery sling, proximal interruption of the pulmonary artery, Scimitar syndrome, and meandering pulmonary veins. Parenchymal disorders encompass congenital lobar overinflation and pulmonary hypoplasia. Increasing recognition of overlapping lesions, particularly combinations of CPAM, sequestration, and bronchial atresia, has challenged traditional compartmental classification systems and supports a developmental spectrum model. This review synthesizes contemporary concepts regarding embryologic mechanisms, pathogenesis, imaging findings, and management of these entities in adults. Particular emphasis is placed on imaging evaluation with CT and MRI, updated terminology, evolving molecular understanding of CPAMs, including lesions with malignant potential, and distinctions between congenital sequestration and pseudosequestration. Recognition of these disorders and their associated anomalies is essential for accurate diagnosis, appropriate management, and surgical planning in adult patients.

Emerging evidence links veno-venous extracorporeal membrane oxygenation (VV-ECMO) to right ventricular (RV) dysfunction, but the relative contribution of ECMO versus underlying disease progression remains unclear. We conducted a multicenter, retrospective, propensity-matched study including 408 intubated acute respiratory distress syndrome (ARDS) patients who were admitted between January 2020 and October 2024 in a quaternary referral hospital network within the United States and underwent at least two transthoracic echocardiograms (TTEs) after intubation. Using 1:2 propensity score matching, we adjusted for baseline comorbidities, baseline hemoglobin, lactate, and worst PaO 2 /FiO 2 ratio (P/F). Longitudinal echocardiographic changes were analyzed with a cumulative link mixed model (CLMM), evaluating RV size and function as ordinal outcomes. Within 408 patients (112 received ECMO support), propensity matching identified 55 ECMO and 110 non-ECMO patients with balanced baseline characteristics. Among 469 serial echocardiograms, RV size and function worsened more frequently in ECMO patients. In longitudinal modeling, ECMO use alone was not associated with RV dilation ( p = 0.23) or dysfunction ( p = 0.43). However, longer ECMO duration was associated with RV dilation (OR: 1.04 per day, p = 0.004) and dysfunction (odds ratio [OR]: 1.04 per day, p < 0.001). Higher ECMO circuit flow had a trend toward progressive RV dilation and dysfunction but did not reach statistical significance. These findings highlight the need for vigilant RV monitoring during ECMO support.

The Omicron variant of SARS-CoV-2 is associated with milder symptoms and lower hospitalization and mortality rates than Delta variants, although the impact of Omicron on immunocompromised patients, especially solid organ transplant (SOT) recipients, is still unclear. This study compares the hospitalization rate and outcomes between immunocompromised, immunocompetent, and SOT patients during the Delta and Omicron periods. We included adult patients who tested positive for SARS-CoV-2 on PCR or nasopharyngeal antigen test between 26 June 2021 to 8 September 2022, at our institution. A total of 12,401 COVID-19 patients were included, of which 11,055 were immunocompetent, and 1346 were immunocompromised (375 SOT recipients). Throughout the Delta and Omicron outbreaks, immunocompromised patients exhibited higher comorbidities and 30-day hospitalizations, but rates of mechanical ventilation and ICU-level care were like immunocompetent patients. During the Omicron wave, immunocompromised patients had higher unadjusted relative risk estimates (RR = 2.37, 95% CI 1.96–2.87, p < 0.05) than Delta (RR = 1.58, 95% CI 1.24–2.01, p < 0.05), with higher adjusted relative risk for hospitalization in Omicron (RR = 1.50, 95% CI 1.10–2.03, p = 0.01). Analyses show increased hospitalization risk in immunocompromised during the Omicron wave compared to the Delta wave, with no significant difference in hospitalization outcomes. The relative risk of hospitalization for SOT patients was higher in both waves.

Abstract Rationale Pulmonary hypertension (PH) is a major determinant of peri- and post-transplant outcomes in liver-transplant recipients. While baseline mean pulmonary artery pressure (mPAP) is routinely assessed, the prognostic value of dynamic hemodynamic improvement during the transplant hospitalization remains poorly defined. This study evaluated whether changes in mPAP (ΔmPAP) independently predict one-year mortality after liver transplantation. Methods This retrospective study utilized data obtained from the Medical Information Mart for Intensive Care (MIMIC-IV) database to identify patients who underwent allogenic liver transplant (ICD-10-PCS code 0FY00Z0) between 2008 and 2019. Patients were excluded if they did not have invasive pulmonary hemodynamics data available through the database. The primary outcome of interest was one year mortality. Among 278 patients who underwent allogenic liver transplant in the given timeframe, 195 liver-transplant were included in the final analysis. Pulmonary pressures were extracted longitudinally and summarized as the first (baseline) and last mPAP values; ΔmPAP was defined as (first − last). The primary outcome was one-year all-cause mortality. Logistic regression models evaluated associations between ΔmPAP (continuous), baseline mPAP, age, and Charlson Comorbidity Index (CCI). Results The cohort included 195 patients (mean age 56 ± 9 years), of whom 62% were male. The mean baseline mPAP was 27 ± 8 mm Hg, and the average ΔmPAP was −8 ± 6 mm Hg. Compared with survivors, non-survivors had higher baseline mean mPAP (29 ± 9 mm Hg vs. 26 ± 7 mm Hg, p = 0.02) and smaller ΔmPAP improvement (−6 ± 5 mm Hg vs. −9 ± 6 mm Hg, p = 0.01). Age and CCI were similar between groups (p &gt; 0.1 for both). On univariate analysis, both higher baseline mPAP (OR 1.09 per mm Hg, p = 0.011) and greater ΔmPAP reduction (OR 0.92 per mm Hg, p = 0.013) predicted one-year mortality. In the multivariable model including ΔmPAP, baseline mPAP, age, and CCI, we noted that ΔmPAP remained the only independent predictor (OR 0.90 per mm Hg, 95 % CI 0.83-0.97, p = 0.009) for 1 year mortality. Increase in baseline mPAP, age and CCI demonstrated non-significant trend towards 1-year mortality risk. Conclusions Greater reduction in mean pulmonary artery pressure during hospitalization independently predicted improved one-year survival after liver transplantation. These findings highlight hemodynamic reversibility being as a key determinant of post-transplant outcomes. Further large scale prospective studies are warranted to evaluate the prognostic utility of hemodynamic parameters in liver transplant patients. This abstract is funded by: None

Background Ketamine has demonstrated efficacy in treatment-resistant depression, primarily in psychiatric or outpatient populations. Its use in ICU patients remains underexplored, with limited data beyond case reports and small series. This study evaluated the association between subanesthetic ketamine infusions and improvement in depressive symptoms and hemodynamic changes in ICU patients. Methods We conducted a retrospective study of adults admitted to the ICU who received IV ketamine (0.3-0.75 mg/kg over 40 min on three consecutive days) for depressive symptoms. Changes in depressive symptoms were assessed using routine clinical documentation by physicians, nurses, and occupational and physical therapists. Hemodynamic parameters (blood pressure and heart rate) were recorded before and up to 120 min after infusion. The primary outcome was to evaluate depressive symptoms while the secondary outcome was to assess hemodynamic changes post transfusion. Results Thirty-four patients met criteria, including 18 solid organ transplant recipients. Median age was 59 years; 61.8% were male. Ketamine was associated with improvement in apparent sadness (90.0% vs 52.2%, P < .05) and reported sadness (95.0% vs 59.1%, P < .05). In transplant recipients, improvement in apparent sadness remained significant (80.0% vs 41.7%, P < .05). Hemodynamic parameters remained stable; heart rate increased transiently at 15-30 min post-infusion, returning to baseline by 60-90 min. Adverse effects observed were anxiety (12.5%), restlessness and/or agitation (10.4%), and dissociation (8.16%). Conclusion Subanesthetic ketamine improved specific depressive symptoms in critically ill ICU patients without significant hemodynamic instability. These findings support its potential as a rapid-acting antidepressant in the ICU, warranting further prospective trials.

Abstract Professional identity is defined as the attitudes, behaviors, values, and experiences by which individuals define themselves in a professional role and is influenced by socialization during training and in the workplace. As professional identity develops and is integrated with one's personal identities, it allows an individual to think, act, and feel like a member of their chosen profession and to develop a sense of meaning, confidence, and satisfaction in their work. Conflicts may arise due to perceived differences between one's professional identity and the collective identity of the profession, resulting in stress, burnout, and attrition, all of which can negatively impact patient care and the collective identity of the genetic counseling profession. Using Social Identity Theory (SIT) as a theoretical framework to develop the semi‐structured interview protocol, recorded interviews were conducted with 50 genetic counselors who were purposefully sampled to ensure diversity of personal demographics (gender, race/ethnicity, sexual orientation, disability, and caregiver status), as well as years, settings, and roles in genetic counseling practice. Transcripts were coded and subjected to codebook thematic analysis using NVivo. Genetic counselors described their professional identity in terms of who they are (characteristics and attributes), what they do (actions and skills), and what they have (training and knowledge). The majority of participants had a multidimensional perspective of what it means to be a genetic counselor, noting the transferability of their skills to a broad set of roles and settings, which supported their sense of professional identity, particularly for those who were no longer seeing patients. Yet many expressed tension with the collective identity of the profession. Expanded opportunities for genetic counselors to work in new settings and roles require review and revision of key professional documents to ensure they are reflective of the collective identity of the genetic counseling profession.