Nephronophthisis (NPHP) is a ciliopathy in which genetic modifiers may underlie the variable penetrance of clinical features. To identify modifiers, a screen was conducted on C. elegans nphp-4(tm925) mutants. Mutations in ten loci exacerbating nphp-4(tm925) ciliary defects were obtained. Four loci have been identified, three of which are established ciliopathy genes mks-1, mks-2, and mks-5. The fourth allele (yhw66) is a missense mutation (S316F) in OSM-3, a kinesin required for cilia distal segment assembly. While osm-3(yhw66) mutants alone have no overt cilia phenotype, nphp-4(tm925);osm-3(yhw66) double mutants lack distal segments and are dye-filling (Dyf) and osmotic avoidance (Osm) defective, similar to osm-3(mn357) null mutants. In osm-3(yhw66) mutants anterograde intraflagellar transport (IFT) velocity is reduced. Furthermore, expression of OSM-3(S316F)::GFP reduced IFT velocities in nphp-4(tm925) mutants, but not in wild type animals. In silico analysis indicates the S316F mutation may affect a phosphorylation site. Putative phospho-null OSM-3(S316F) and phospho-mimetic OSM-3(S316D) proteins accumulate at the cilia base and tip respectively. FRAP analysis indicates that the cilia entry rate of OSM-3(S316F) is slower than OSM-3 and that in the presence of OSM-3(S316F), OSM-3 and OSM-3(S316D) rates decrease. In the presence OSM-3::GFP or OSM-3(S316D)::GFP, OSM-3(S316F)::tdTomato redistributes along the cilium and accumulates in the cilia tip. OSM-3(S316F) and OSM-3(S316D) are functional as they restore cilia distal segment formation in osm-3(mn357) null mutants; however, only OSM-3(S316F) rescues the osm-3(mn357) null Dyf phenotype. Despite rescue of cilia length in osm-3(mn357) null mutants, neither OSM-3(S316F) nor OSM-3(S316D) restores ciliary defects in nphp-4(tm925);osm-3(yhw66) double mutants. Thus, these OSM-3 mutations cause NPHP-4 dependent and independent phenotypes. These data indicate that in addition to regulating cilia protein entry or exit, NPHP-4 influences localization and function of a distal ciliary kinesin. Moreover, data suggest human OSM-3 homolog (Kif17) could act as a modifying locus affecting disease penetrance or expressivity in NPHP patients.
IntroductionTransvenous pacemaker insertion is a critical life-saving procedure that is infrequently performed. Traditional mannequin-based training paradigms are resource intensive and sometimes inadequate due to time constraints. Rapid Cycle Deliberate Practice (RCDP) is an effective teaching modality for highly scripted procedures. We propose using a simulation-based technique of RCDP in virtual reality (VR) to teach this procedure. MethodsSixteen emergency medicine residents were recruited. A pre-survey was administered at the start of the session, followed by a baseline task trainer checklist-based assessment. This checklist was created based on expert consensus. Participants then underwent the RCDP VR intervention with a subsequent repeat checklist-based assessment as well as a post-survey. ResultsPost-test scores were found to be significantly higher than pre-test scores after residents completed VR deliberate practice simulation (19.5±3.5 vs 24.1±2.0; p<0.001). Subanalysis did not reveal any significant difference based on post-graduate year, previous performance of procedure on a live patient, or previous VR experience. The experience increased participant feelings of preparedness and comfort in performing the procedure (2-disagree vs 4-agree) based on a 5-point Likert scale. ConclusionsVirtual reality using RCDP to teach transvenous pacemaker insertion demonstrated an improvement in task trainer performance. Further investigation into whether this translates into better patient outcomes or can be generalized to other procedures needs to be considered.
Background: Several studies show that emergency medicine (EM) physicians are less comfortable caring for pediatric patients than adults. The state of pediatric training has not been comprehensively evaluated since 2000. Objectives:We sought to describe current pediatric education in EM residencies and to evaluate EM Program Director (PD) confidence in graduating trainees' abilities to care for pediatric patients. Methods:We conducted an anonymous, cross-sectional survey study of EM PDs in August 2020. We collected program demographics, clinical rotations, and didactic methods. We used Likert scales to measure PD confidence in graduating residents' competence to care for pediatric and adult patients. Results:We found e-mail addresses for 249 (93%) of 268 EM programs.One hundred nineteen (48%) PDs completed the survey. We include denominators to account for unanswered questions. Sixty-eight (59%) of 116 programs spend 10% to 20% of clinical time seeing pediatric patients. One hundred ten (91%) of 119 require a pediatric emergency medicine (PEM) rotation, 88/119 (83%) require pediatric intensive care, and 34/ 119 (29%) require neonatal intensive care. Seventy (62%) of 113 have curricula designed by PEM-trained faculty, 96/113 (85%) have PEM attendings teach lectures, and 77/113 (68%) spend 10% to 20% of didactic time on pediatric topics. Twenty-three (23%) of 106 PDs stated not all residents graduate with competence in pediatric resuscitation compared with 2/106 (2%) for adult resuscitation ( P < 0.05). Conclusions:Program directors report less confidence in graduating residents' competence in caring for pediatric patients compared with adult patients. We propose ideas to strengthen the quality of pediatric education in EM residencies.
Introduction: Rapid cycle deliberate practice (RCDP) is a relatively new method for delivering simulation for a structured algorithm-based clinical content. We sought to understand how a group of practicing emergency medicine healthcare professionals would perceive RCDP as a learning method. Methods: This was a qualitative study of participants' reactions to RCDP simulation during an orientation process to a new freestanding emergency department using grounded theory. Focus groups were held after simulation sessions to investigate the participants reactions to RCDP as well as the experience of multiple professions participating. Two investigators independently coded the focus group transcripts to detect themes and developed a list of codes, which were then confirmed by consensus. Data were organized into themes with contributing codes.Results: Thirty-one individuals participated in the focus groups including physicians, nurse practitioners, nurses, respiratory therapists, and patient care technicians. Four themes were detected: the procedural components of RCDP, the behavioral response to RCDP, learning through RCDP, and RCDP as interprofessional experience. The participants view of emotions and interruptions and pauses had discrepant interpretation. Conclusions: Participants received RCDP simulation positively. Initial negative reactions to the interruptions and pauses of RCDP dissipated as the simulation progressed. Ultimately, learners agreed that RCDP was extremely effective as compared with traditional simulation for medical resuscitation training because of the authenticity of the multidisciplinary aspect. This suggests that RCDP may be an effective tool for continuing education of practicing healthcare professionals.
Objectives Routine competency assessments of procedure skills, such as central venous catheter (CVC) insertion, do not occur beyond residency training. Evidence suggests variable, suboptimal attending physician procedure skills. Our study aimed to assess CVC insertion skill by academic emergency physicians, determine whether a simulation‐based mastery learning (SBML) intervention improves performance and investigate for variables that predict competence. Methods This is a pretest–posttest study that evaluated simulated CVC insertion by emergency medicine (EM) faculty physicians. We assessed 44 volunteer participants at a large academic medical center over a 1‐month period using a published 29‐item checklist. Our primary outcome was the difference in assessment score before and after a SBML intervention. A secondary analysis evaluated predictors of pretest performance. Results A total of 44 subjects participated. Only four of 44 (9.1%) of subjects met a predefined minimum passing score on pretest. Mean assessment scores increased by 21.5% following the SBML intervention (95% confidence interval [CI] of the difference = 18.1% to 24.8%, p < 0.001). In a regression model, pretest scores increased by 10.8% (95% CI = 2.9 to 18.7%, p = 0.009) if subjects completed postgraduate training within 5 years. Frequency of CVC insertion did not predict performance, but 25 of 44 (56.8%) faculty members had no documented performance or supervision of a CVC insertion within 1 year of assessment. Conclusions SBML is a promising method to assess and improve CVC insertion performance by EM faculty physicians. Recent completion of postgraduate training was a significant predictor of CVC insertion performance. Our results require validation in larger cohorts of EM physicians across other academic institutions.
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