Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia.

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome, with a hallmark of erythroblastopenia and congenital anomalies. DBA demonstrates genetic heterogeneity and variable phenotypic expression. We present two cases of atypical DBA harboring de novo mutations in the RPS-19 gene with c.49 G>C and c.357-1G>T allelic variants. The two cases presented confounding critical illness demonstrated by multiorgan failure, aplastic crisis, with case 2 meeting the criteria for hemophagocytic lymphohistiocytosis. We highlight the utility of genetic testing in the early diagnosis of DBA and the associated complexities and burden of disease in caring for DBA patients.

Building reliable and generalizable clerkship competency assessments: Impact of 'hawk-dove' correction.

PURPOSE: Systematic differences among raters' approaches to student assessment may result in leniency or stringency of assessment scores. This study examines the generalizability of medical student workplace-based competency assessments including the impact of rater-adjusted scores for leniency and stringency. METHODS: Data were collected from summative clerkship assessments completed for 204 students during 2017-2018 the clerkship at a single institution. Generalizability theory was used to explore variance attributed to different facets (rater, learner, item, and competency domain) through three unbalanced random-effects models by clerkship including applying assessor stringency-leniency adjustments. RESULTS: In the original assessments, only 4-8% of the variance was attributed to the student with the remainder being rater variance and error. Aggregating items to create a composite score increased variability attributable to the student (5-13% of variance). Applying a stringency-leniency ('hawk-dove') correction substantially increased the variance attributed to the student (14.8-17.8%) and reliability. Controlling for assessor leniency/stringency reduced measurement error, decreasing the number of assessments required for generalizability from 16-50 to 11-14. CONCLUSIONS: Similar to prior research, most of the variance in competency assessment scores was attributable to raters, with only a small proportion attributed to the student. Making stringency-leniency corrections using rater-adjusted scores improved the psychometric characteristics of assessment scores.

Vitamin d deficiency in children with cancer.

A limited number of small studies have examined the vitamin D status of pediatric oncology patients, and the results indicate an increased prevalence of hypovitaminosis. We conducted a cross-sectional study with the primary aim of describing the vitamin D status of our pediatric cancer patients and any associations with demographic characteristics. Our secondary aim was to compare this prevalence to that of a healthy population. We collected data on children seen in our clinic and determined the overall prevalence of hypovitaminosis. We then compared this prevalence to that of healthy populations described in the literature. The prevalence of hypovitaminosis in our study population was 72%. Forty-three percent of our patients were considered deficient with 8% being severely deficient. Our analysis revealed a significant association between the outcome and age in that patients 6 years and above were more likely to have hypovitaminosis after adjustment for other characteristics (AOR = 3.23; 95% CI, 1.11-9.40). When compared with a healthy pediatric population, our patients had a significantly higher prevalence of hypovitaminosis (P-value = 0.003). Vitamin D deficiency is very common in children with cancer, representing a subpopulation of high-risk patients that could benefit most from early detection and supplementation.

Implementation of a Workplace-Based Assessment System to Measure Performance of the Core Entrustable Professional Activities in the Pediatric Clerkship.

OBJECTIVE: The Core Entrustable Professional Activities for Entering Residency (Core EPAs) were developed to address the gap between medical school and residency. There is a lack of instruments to measure performance of the Core EPAs in clerkships. We describe the operationalization and outcomes of a workplace-based assessment (WBA) system to measure performance of the Core EPAs in the pediatrics clerkship. METHODS: A mobile-friendly WBA was developed at the authors' institution. The WBA incorporated a modified version of the Ottawa Clinic Assessment Tool (OCAT), an instrument that rates performance on a scale of 1 to 4 (1- "I had to do it" to 4- "I had to be there just in case"). During 2018 to 2019, all students were required to request feedback for 6 of the 13 Core EPAs using the WBA in the Pediatrics clerkship. Descriptive and inferential statistics were calculated to assess mean OCAT scores, variance in performance and correlation between scores, clerkship timing, and grades. RESULTS: Total 1655 WBAs were completed for 218 students. The overall mean OCAT score was 3.47 out of 4. Scores across Core EPAs were greater in later rotations (r = 0.157, P < .001). One-way analysis of variance revealed significant variance on score by student, assessor, and timing of clerkship block. Final grades were correlated with OCAT scores (Spearman's ρ = 0.25, P < .001). CONCLUSIONS: The results of this study demonstrate initial outcomes for a WBA system to assess performance for the Core EPAs in pediatrics using the OCAT scale. Future studies will assess the system across clerkships.

Bringing clerkship grading back to the bedside.

BACKGROUND: The hallmark of medical education is learning from patients through interactions at the bedside. However, many medical schools incorporate clinical clerkship grading systems that incentivize time away from patient care activities to focus on examinations of medical knowledge. The purpose of this innovation was to develop a grading system that encouraged development of competencies beyond medical knowledge, including patient care, communication, and professionalism skills. METHODS: In 2016, the authors convened a diverse workgroup to reform the clerkship grading approach at their institution. The group reviewed relevant literature and discussed approaches used by other institutions. They developed a competency-based criterion system. For each of four competency domains (patient care, medical knowledge (examination score), professionalism, and communication/teamwork), students received a designation of inadequate, competent, or exemplary. The highest grade ("honors") was awarded to students who met the criteria for exemplary performance in at least two domains. It was a primarily compensatory model, although to achieve competency (pass) scoring was non-compensatory (acceptable performance in all categories). RESULTS: A total of 231 medical students received 1499 clerkship grades during the 2018-2019 year. Compared to previous years, more students (40% vs. 15%) received honors. A substantial proportion (43%) received honors without achieving an exemplary designation in the medical knowledge domain (i.e., standardized examination). FINDINGS AND DISCUSSION: The revised grading system provided several avenues for students to excel and receive honors in their clerkships allowing for recognition of students who excelled in patient care-related areas other than standardized examinations.

Uncertainty in Decision Making in Medicine: A Scoping Review and Thematic Analysis of Conceptual Models.

PURPOSE: The practice of medicine is rarely straightforward. Data used to facilitate medical decision making may be conflicting, ambiguous, or scarce, and providing optimal care requires balancing clinicians' expertise and available evidence with patients' preferences. To explore uncertainty in decision making across disciplines, the authors performed a scoping review and thematic analysis of the literature to formulate a model describing the decision-making process in medicine under uncertain conditions. METHOD: In 2016, the authors performed a comprehensive search of key databases using a combination of keywords and controlled vocabulary. They identified and reviewed 3,398 records. After applying their inclusion and exclusion criteria to the titles and abstracts and then full texts, 19 articles were selected. The authors applied a qualitative thematic analysis to these articles, using codes to extract themes related to uncertainty in decision making. RESULTS: The 19 articles spanned 6 fields of study and 5 disciplines within the health sciences. The thematic analysis revealed 6 main themes: recognition of uncertainty, classification of uncertainty, stakeholder perspectives, knowledge acquisition, decision-making approach, and evaluation of the decision-making process. CONCLUSIONS: Based on the themes that emerged from their thematic analysis of the literature characterizing the effects of uncertainty and ambiguity on the decision-making process, the authors developed a framework depicting the interplay between these themes with a visual representation of the decision-making process under uncertain conditions. Future research includes further development and validation of this framework to inform medical school curricula.

The One Note System: Implementation and Initial Perceptions of Student Documentation in the Electronic Health Records Under the New Centers for Medicare and Medicaid Services Guidelines.

Introduction Medical students have been documenting notes in the electronic health records (EHR) for many years but often wrote separate notes from housestaff and faculty because licensed providers (LPs) could not bill the Centers for Medicare and Medicaid Services (CMS) for Evaluation and Management (E/M) services. However, in 2018, CMS updated its policy to allow LPs to simply verify any component of an E/M service under appropriate supervision, allowing LPs to bill a full medical student note. Methods At Virginia Commonwealth University Health Systems (VCUHS), a task force was formed to develop and pilot the One Note System (ONS), a system that incorporates the new CMS guidelines for certain note types. In June 2019, or 10 months after implementation of the ONS, the authors developed and distributed a survey that explored perceptions regarding the ONS among medical students, housestaff (residents and fellows), and faculty. Results The results showed that most participants were aware of the ONS and preferred email as the form of training. Overall, the ONS had a positive impact on faculty and housestaff workflow, improved self-reported faculty wellbeing, and increased meaning in student work. Only a minority reported barriers to implementing the ONS. Conclusions The One Note System was successfully implemented at VCUHS and positively received. Other outcomes to measure include impact of the ONS on student and trainee education, compliance and billing, quality and quantity of documentation, and faculty and housestaff burnout rates.

Student well-being and the learning environment.

BACKGROUND: Medical student well-being is a critical issue in medical education and is linked to burnout and resilience. Understanding the impact of the clinical learning environment may be crucial to developing effective curricular interventions. Medical student well-being is a critical issue in medical education OBJECTIVE: To determine factors affecting medical student well-being and perceived stress during clinical clerkships and describe any associations with the learning environment, resilience, and performance. METHODS: This was a retrospective study of one cohort of medical students surveyed at the conclusion of third-year clinical clerkships using the Medical School Learning Environment Scale, Brief Resilience Scale, Perceived Stress Scale, and the World Health Organization Well-Being Index. The United States Medical Licensing Examination (USMLE), Step 1 scores and clerkship performance were also collected. Analysis included Pearson correlations and linear regression. RESULTS: Of the 204 students completing the clerkships, 146 students completed the survey (72%). Well-being correlated positively with learning environment (r = 0.43) and resilience (r = 0.35, p < 0.01). Stress was negatively correlated with learning environment (r = -0.34) and resilience (r = -0.53, p < 0.01). Well-being was not significantly correlated with performance measures. However, stress demonstrated a weak positive correlation with clerkship performance (r = 0.17, p < 0.05). The overall regression models for well-being and stress were statistically significant (p < 0.001) and explained 23% and 26% of the variance, respectively. CONCLUSIONS: Our study found that well-being and stress are associated with students' resilience and perception of the learning environment in the clinical phase of medical school. However, we found no relationship between well-being and performance and a modest positive relationship between stress and performance. This data helps to illustrate the complex relationship between these factors.

Piloting a pediatric trauma course in Western Jamaica: Lessons learned and future directions.

INTRODUCTION: Pediatric injuries are a leading cause of death in low- and middle-income countries (LMICs). Despite this, there are few formal pediatric-specific trauma educational initiatives available in LMICs. While new educational tools are being developed to address this, they have not been piloted in LMICs. In Jamaica, pediatric injuries are a leading cause of hospital admission but care is limited by a lack of training in triage and stabilization. Our objective was to implement and evaluate a pediatric trauma course in Jamaica to determine the impact this may have on further course development. MATERIALS AND METHODS: A pediatric trauma course was conducted at the Cornwall Regional Hospital in Montego Bay, Jamaica sponsored by the Children's Medical Services International, a nonprofit organization. Participants took part in six didactic modules, an infant airway intubation skills session, and three clinical simulation scenarios. Participants completed a postcourse survey at the conclusion of the course. RESULTS: Twenty-five participants including surgical, pediatric, and emergency medicine residents from regional- and district-level hospitals in Jamaica participated in the course. Participants viewed the course favorably. Strengths included good review of pediatric trauma physiology, short modules, hands-on practice, and applicable clinical scenarios. Using a Likert-type rating scale of 1 to 10, with 1 being minimal and 10 being very knowledgeable, precourse knowledge was ranked as 5.9, which increased to 9.2 after the course. Using a similar scale, the precourse comfort level to run a pediatric trauma was 4.9 and increased to 8.5 following the course. DISCUSSION: Implementation of this pilot pediatric trauma course was feasible and successful through collaboration with the hosting regional hospital. The lack of formal pediatric training can be overcome by a course such as this which includes both didactics and hands-on clinical patient simulations. LEVEL OF EVIDENCE: 4.

Physical activity and sedentary behavior of cancer survivors and non-cancer individuals: results from a national survey.

Increasing physical activity and decreasing sedentary behavior are associated with a higher quality of life and lower mortality rates for cancer survivors, a growing population group. Studies detailing the behavior of cancer survivors are limited. Therefore, we investigated physical activity and sedentary behavior of cancer survivors using data from the National Health and Nutrition Examination Survey (NHANES) 2007-2010. Participants were those who provided physical activity and sedentary behavior data. Those who were pregnant, <20 years old, or <3 years from their cancer diagnosis were excluded. A cancer case was a self-reported diagnosis by a physician. We identified 741 cancer survivors and 10,472 non-cancer participants. After adjustment for age, race, gender, education status, body mass index, and smoking status, cancer survivors (n = 10,472) reported significantly longer duration of sedentary behavior (OR = 1.42, 95% CI (1.12, 1.80) for 8 or more hours, p-value for trend = 0.09), compared to non-cancer participants (n = 741). They also reported non-significant increases in maximum intensity, duration, frequency, and energy expenditure, whereas they reported significant increases in moderate intensity (OR = 1.26, 95% CI (1.01, 1.57)), moderate frequency (1-4 times/week) (OR = 1.32, 95% CI (1.00, 1.74)), and moderate energy expenditure (4018.5-7623.5 kcal) (OR = 1.30, 95% CI (1.00, 1.71)) of physical activity, compared to non-cancer participants. These patterns are similar for breast and prostate cancer survivors, with prostate cancer survivors more likely to engage in physical activity for more than one hour per day (OR = 1.98, 95% CI (1.05, 3.71)). Our findings suggest that cancer survivors tend to have more physical activity, but they are also more likely to engage in sedentary behavior.