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Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact of CES by conducting a survey study of English‐speaking parents of children who had diagnostic CES. Parents of 192 unique patients participated. The parent's interpretation of the child's result agreed with the clinician's interpretation in 79% of cases, with more frequent discordance when the clinician's interpretation was uncertain. The majority (79%) reported no regret with the decision to have CES. Most (65%) reported complete satisfaction with the genetic counseling experience, and satisfaction was positively associated with years of genetic counselor (GC) experience. The psychological impact of CES was greatest for parents of children with positive results and for parents with anxiety or depression. The results of this study are important for helping clinicians to prepare families for the possible results and variable psychological impact of CES. The frequency of parental misinterpretation of test results indicates the need for additional clarity in the communication of results. Finally, while the majority of patients were satisfied with their genetic counseling, satisfaction was lower for new GCs, suggesting a need for targeted GC training for genomic testing. [ABSTRACT FROM AUTHOR]

Poster: RTT track: Motion management and adaptive strategies PO-1912: Clinical experience of using stereotactic ablative body radiotherapy on inoperable pancreatic cancer J. Duong, Y.M. Tsang, M. Harrison. [Extracted from the article]

Aim: Transcriptional regulation of gene expression plays a crucial role in orchestrating complex morphogenetic and molecular events during heart development and function. Mediator complex is an essential multi-subunit protein complex that governs gene expression in eukaryotic cells. Although Mediator subunits (MEDs) work integrally in the complex, individual MED component displays specialized functions. MED27, categorized as an Upper Tail subunit, possesses an as-yet-uncharacterized function. In this study, we aimed to investigate the physiological role of MED27 in cardiomyocytes., Materials and Methods: we generated a Med27 floxed mouse line, which was further used to generate constitutive (cKO) and inducible (icKO) cardiomyocyte-specific Med27 knockout mouse models. Morphological, histological analysis and cardiac physiological studies were performed in Med27 cKO and icKO mutants. Transcriptional profiles were determined by RNA sequencing (RNAseq) analysis., Key Fundings: Ablation of MED27 in developing mouse cardiomyocytes results in embryonic lethality, while its deletion in adult cardiomyocytes leads to heart failure and mortality. Similar to the ablation of another Upper Tail subunit, MED30 in cardiomyocytes, deletion of MED27 leads to decreased protein levels of most MEDs in cardiomyocytes. Interestingly, overexpression of MED30 fails to restore the protein levels of Mediator subunits in MED27-deficient cardiomyocytes, demonstrating that the role of MED27 in maintaining the integrity and stability of the Mediator complex is independent of MED30., Significance: Our results revealed an essential role of MED27 in cardiac development and function by maintaining the stability of the Mediator core., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Study Objective: We previously designed and validated a virtual reality-based simulator to help train novices in ultrasound-guided needling skills necessary for safe and competent ultrasound-guided regional anaesthesia. This study was designed to compare the performance and error rates of novices trained by a human faculty aided with the assistance of this virtual reality simulator (virtual reality-assisted training), versus novices trained wholly by humans (conventional training)., Design, Setting, and Participants: In this single centre, randomised controlled study, we used a standardised teaching protocol, rigorous blinding, iterative training of assessors, and validated global rating scale and composite error score checklists to assess skills learning of novice participants., Main Results: We recruited 45 novices and scored 270 assessments of performance and error rates. Inter-rater correlation coefficient of reliability of scoring between assessors for the global rating scale was 0.84 (95%CI 0.68-0.92) and for the composite error score checklist was 0.87 (95%CI 0.73-0.93). After adjustment for age, sex, Depression, Anxiety and Stress-21, and baseline score, there was no statistical difference for virtual reality-assisted training compared to conventional training in final global rating score (average treatment effect -3.30 (95%CI-13.07-6.48), p = 0.51) or in the final composite error score (average treatment effect 1.14 (95%CI -0.60-2.88), p = 0.20). Realism in the virtual reality simulator was similar to real-life when measured by the Presence Questionnaire, all components p > 0.79; and task workload assessed by the NASA-Task Load Index was not statistically different between groups, average treatment effect 5.02 (95%CI -3.51-13.54), p = 0.25. Results were achieved in the virtual reality-assisted group with half the human faculty involvement., Conclusion: Novices trained using a hybrid, virtual reality-assisted teaching program showed no superiority to novices trained using a conventional teaching program, but with less burden on teaching resources., Competing Interests: Declaration of competing interest None., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Objective: There is a need to understand how family engagement in the intensive care unit (ICU) impacts patient outcomes. We reviewed the literature for randomized family-centered interventions with patient-related outcomes in the adult ICU., Data Sources: The MEDLINE, EMBASE, PsycINFO, CINAHL, and the Cochrane Library databases were searched from inception until July 3, 2023., Study Selection: Articles involving randomized controlled trials (RCTs) in the adult critical care setting evaluating family-centered interventions and reporting patient-related outcomes., Data Extraction: Author, publication year, setting, number of participants, intervention category, intervention, and patient-related outcomes (patient-reported, physiological, clinical) were extracted., Data Synthesis: There were 28 RCTs (12,174 participants) included. The most common intervention types were receiving care and meeting needs (N = 10) and family presence (N = 7). 16 RCTs (57%) reported ≥1 positive outcome from the intervention; no studies reported worse outcomes. Studies reported improvements in patient-reported outcomes such as anxiety, satisfaction, post-traumatic stress symptoms, depression, and health-related quality of life. RCTs reported improvements in physiological indices, adverse events, mechanical ventilation duration, analgesia use, ICU length of stay, delirium, and time to withdrawal of life-sustaining treatments., Conclusions: Nearly two-thirds of RCTs evaluating family-centered interventions in the adult ICU reported positive patient-related outcomes., Keypoints: Question: Do family-centered interventions improve patient outcomes in the adult intensive care unit (ICU)?, Findings: The systematic review found that nearly two-thirds of randomized clinical trials of family-centered interventions in the adult ICU improved patient outcomes. Studies found improvements in patient mental health, care satisfaction, physiological indices, and clinical outcomes. There were no studies reporting worse patient outcomes. Meaning: Many family-centered interventions can improve patient outcomes., Competing Interests: Declaration of competing interest None to declare., (Copyright © 2023. Published by Elsevier Inc.)