Deliberate Practice as an Effective Method for Reducing Diagnostic Error in Identifying Burn and Bruise Injuries Suspicious for an Abusive Injury.

OBJECTIVE: To examine the effectiveness of an education intervention for reducing physician diagnostic error in identifying pediatric burn and bruise injuries suspicious for abuse, and to determine case-specific variables associated with an increased risk of diagnostic error. STUDY DESIGN: This was a multicenter, prospective, cross-sectional study. A convenience sample of pediatricians and other front-line physicians who treat acutely injured children in the United States and Canada were eligible for participation. Using a web-based education and assessment platform, physicians deliberately practiced with a spectrum of 300 pediatric burn and bruise injury image-based cases. Participants were asked if there was a suspicion for abuse present or absent, were given corrective feedback after every case, and received summative diagnostic performance overall (accuracy), suspicion for abuse present (sensitivity), and absent (specificity). RESULTS: Of the 93/137 (67.9%) physicians who completed all 300 cases, there was a significant reduction in diagnostic error (initial 16.7%, final 1.6%; delta -15.1%; 95% CI -13.5, -16.7), sensitivity error (initial 11.9%, final 0.7%; delta -11.2%; 95% CI -9.8, -12.5), and specificity error (initial 23.3%, final 6.6%; delta -16.7%; 95% CI -14.8, -18.6). Based on 35 627 case interpretations, variables associated with diagnostic error included patient age, sex, skin color, mechanism of injury, and size and pattern of injury. CONCLUSIONS: The education intervention substantially reduced diagnostic error in differentiating the presence vs absence of a suspicion for abuse in children with burn and bruise injuries. Several case-based variables were associated with diagnostic error, and these data can be used to close specific skill gaps in this clinical domain.

Evolving threat of pediatric ingestions: a discussion of cannabis and button batteries and their implications for children.

PURPOSE OF REVIEW: Pediatric button battery and cannabis ingestions are rising in incidence and have the potential for significant harm. This review will focus on the clinical presentation and complications of these two common inadvertent ingestions in children, as well as recent regulatory efforts and advocacy opportunities. RECENT FINDINGS: The rising incidence of cannabis toxicity in children has corresponded with its legalization across several countries in the last decade. Inadvertent pediatric cannabis intoxication is most commonly due to the ingestion of edible forms discovered by children in their own home. The clinical presentation can be nonspecific, therefore clinicians should have a low threshold for including it on their differential diagnosis. Button battery ingestions are also increasing in incidence. While many children are asymptomatic at presentation, button battery ingestions can quickly cause esophageal injury and lead to several serious and potentially life-threatening complications. Prompt recognition and removal of esophageal button batteries is essential for reducing harm. SUMMARY: Cannabis and button battery ingestions are important for physicians who take care of children to recognize and manage appropriately. Given their rising incidence, there are many opportunities for policy improvements and advocacy efforts to make a difference in preventing these ingestions altogether.

EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support.

EEF1A2 is a gene whose protein product, eukaryotic translation elongation factor 1 alpha 2 (eEF1A2), plays an important role in neurodevelopment. Reports of individuals with pathogenic variants in EEF1A2 are rare, with less than 40 individuals reported world-wide, however a common feature is the association of the variant with developmental and epileptic encephalopathy. Thus far, there have been limited reports of other organ systems or body functions affected by variants in this gene. Here, we present a case of a child with EEF1A2-related disorder who presented at 3 months of age with hypotonia, microcephaly, failure to thrive, and respiratory insufficiency with central apneas requiring respiratory support. Our case highlights the notion that the respiratory system may be highly implicated in EEF1A2-related disorder, allowing for better phenotypic characterization of the disorder.

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, café-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. He has gastroesophageal reflux, constipation with delayed rectosigmoid colonic transit time, difficulty regulating temperature, several musculoskeletal issues, and a history of one grand mal seizure. Patient 2, 10-years-old, has mild dysmorphic features, therapy resistant vomiting with diminished motility of the stomach, mild constipation, cortical visual impairment with intermittent strabismus, axial hypotonia, difficulty regulating temperature, and cutaneous mastocytosis. Genetic testing identified KIAA2022 variant c.652C > T(p.Arg218*) in Patient 1, and a novel nonsense de novo variant c.2707G > T(p.Glu903*) in Patient 2. We also summarized features of all reported males with KIAA2022 variants to date. This report not only adds knowledge of a novel pathogenic variant to the KIAA2022 variant database, but also likely extends the spectrum by describing novel dysmorphic features and medical conditions including macroglossia, café-au-lait spots, keratoconus, severe cutaneous mastocytosis, and motility problems of the GI tract, which may help physicians involved in the care of patients with this syndrome. Lastly, we describe the power of social media in bringing families with rare medical conditions together.

SCUBA Diving in Pregnancy.

OBJECTIVE: Obstetrical care providers may occasionally encounter women with questions about the safety of Self-Contained Underwater Breathing Apparatus (SCUBA) diving in pregnancy. This article provides an overview of safety issues associated with basic SCUBA diving and offers guidance to practitioners about how to evaluate and counsel pregnant women about the associated maternal and fetal risks. Basic diving physiology is reviewed and the implications of SCUBA diving during pregnancy are discussed. A literature review examined available animal and human data about the potential adverse effects of the physiological changes of pregnancy on divers, the impact of pressure changes during diving, and possible consequences of hyperbaric gas exposure and rapid decompression on mother and fetus. DATA SOURCES: Studies were found by searching the terms "scuba diving," "pregnancy," "fetus," "decompression illness," "hyperbaric medicine," and "animal studies" in the databases Medline, Pubmed, and Embase. Reference lists from existing articles and reports from identified diving magazines were also reviewed. Studies were limited to the English language and included publications until 2016. STUDY SELECTION: All relevant human studies were selected. Five retrospective studies and one prospective study assessing the antenatal and postnatal outcomes of women who participated in SCUBA diving while pregnant were reviewed. DATA SYNTHESIS: Published data was limited in both quantity and quality. The authors' experience with SCUBA diving together with a background in obstetrics allowed themes to be explored and recommendations developed. CONCLUSIONS: In addition to established risks of SCUBA diving, pregnant women are at increased risk due to changes in body habitus (affecting equipment fitting and balance). Animal data suggest possible adverse fetal effects due to fetal decompression illness (DCI) and hyperbaric oxygen exposure. Human data, though generally reassuring, are of poor quality and thus do not completely exclude adverse outcomes. In general, women should be cautioned to avoid diving during pregnancy, but inadvertent exposure to recreational diving in early pregnancy is not a reason for pregnancy termination.

Does socioeconomic and environmental burden affect vulnerability to extreme air pollution and heat? A case-crossover study of mortality in California.

BACKGROUND: Extreme heat and air pollution is associated with increased mortality. Recent evidence suggests the combined effects of both is greater than the effects of each individual exposure. Low neighborhood socioeconomic status ("socioeconomic burden") has also been associated with increased exposure and vulnerability to both heat and air pollution. We investigated if neighborhood socioeconomic burden or the combination of socioeconomic and environmental exposures ("socioenvironmental burden") modified the effect of combined exposure to extreme heat and particulate air pollution on mortality in California. METHODS: We used a time-stratified case-crossover design to assess the impact of daily exposure to extreme particulate matter <2.5 µm (PM2.5) and heat on cardiovascular, respiratory, and all-cause mortality in California 2014-2019. Daily average PM2.5 and maximum temperatures based on decedent's residential census tract were dichotomized as extreme or not. Census tract-level socioenvironmental and socioeconomic burden was assessed with the CalEnviroScreen (CES) score and a social deprivation index (SDI), and individual educational attainment was derived from death certificates. Conditional logistic regression was used to estimate associations of heat and PM2.5 with mortality with a product term used to evaluate effect measure modification. RESULTS: During the study period 1,514,292 all-cause deaths could be assigned residential exposures. Extreme heat and air pollution alone and combined were associated with increased mortality, matching prior reports. Decedents in census tracts with higher socioenvironmental and socioeconomic burden experienced more days with extreme PM2.5 exposure. However, we found no consistent effect measure modification by CES or SDI on combined or separate extreme heat and PM2.5 exposure on odds of total, cardiovascular or respiratory mortality. No effect measure modification was observed for individual education attainment. CONCLUSION: We did not find evidence that neighborhood socioenvironmental- or socioeconomic burden significantly influenced the individual or combined impact of extreme exposures to heat and PM2.5 on mortality in California. IMPACT: We investigated the effect measure modification by socioeconomic and socioenvironmental of the co-occurrence of heat and PM2.5, which adds support to the limited previous literature on effect measure modification by socioeconomic and socioenvironmental burden of heat alone and PM2.5 alone. We found no consistent effect measure modification by neighborhood socioenvironmental and socioeconomic burden or individual level SES of the mortality association with extreme heat and PM2.5 co-exposure. However, we did find increased number of days with extreme PM2.5 exposure in neighborhoods with high socioenvironmental and socioeconomic burden. We evaluated multiple area-level and an individual-level SES and socioenvironmental burden metrics, each estimating socioenvironmental factors differently, making our conclusion more robust.

Symptomatic presentation influences outcomes in pediatric restrictive cardiomyopathy.

Introduction: Children with restrictive cardiomyopathy (RCM) traditionally have a poor prognosis, with most patients either dying or requiring heart transplantation within 2 years of diagnosis. The development of symptoms in RCM suggests advanced disease. However, as screening practices evolve and lead to diagnosis of early disease, identifying appropriate timing of transplant listing becomes increasingly important. In this context we compared outcomes of children with RCM presenting with clinical symptoms to those asymptomatic at initial presentation. Methods: This retrospective cohort study included 25 patients with RCM presenting to a quaternary care center between 2001 and 2018. Times to transplantation, death, and a composite outcome of adverse cardiac events (CPR, cardioversion, inotropic support, mechanical ventilation, mechanical support, or heart transplant) were compared between those symptomatic and asymptomatic at presentation. Results: At 2 years following diagnosis, patients asymptomatic at presentation had a significantly better transplant-free survival at 57% compared to 17% for symptomatic patients (p = 0.03). Those asymptomatic at diagnosis also had significantly improved cardiac event-free survival at 71% compared to symptomatic patients at 25% (p = 0.01). In multivariable analysis, cardiac symptoms at presentation remained an independent risk factor for heart-transplant or death [hazard ratio 5.17 (1.28-20.85), p = 0.02]. Conclusion: Patients with RCM who are symptomatic at time of diagnosis have significantly worse transplant-free survival and cardiac event-free survival. Given current practice variability in timing of transplant listing, the presence of any cardiac symptoms is an important negative prognostic marker and should prompt urgent transplant listing.

Ambient temperature and air pollution associations with suicide and homicide mortality in California: A statewide case-crossover study.

BACKGROUND: Higher ambient temperature and air pollution may contribute to increased risk of behaviors harmful to oneself or to others; however, quantitative evidence is limited. We examined the relationship of deaths due to suicide and homicide with temperature and air pollution in California-a state prone to high levels of both exposures. METHOD: California death certificates from 2014 to 2019 were used to identify deaths due to suicide and homicide. Residential data for decedents were used to assign exposure to daily temperature (maximum[Tmax], minimum[Tmin]) and daily average air pollution concentrations (particulate matter <10 µm[PM10] and < 2.5 µm[PM2.5], nitrogen dioxide[NO2], ozone[O3]). Tmin served as a surrogate for nighttime temperature. A time-stratified case-crossover study design using conditional logistic regression was used to assess the effects of daily exposure to temperature and air pollutants on suicide and homicide mortality, adjusting for relative humidity. Effect modification by sex and age was assessed. RESULTS: We observed 24,387 deaths due to suicide and 10,767 deaths due to homicide. We found a monotonic temperature association for both outcomes. A 5 °C increase in Tmax at lag-2 and Tmin at lag-0 was associated with 3.1 % (95 % confidence interval [CI]: 1.1 %-5.2 %) and 3.8 % (95%CI: 0.9 %-6.8 %) increased odds of death due to suicide, respectively. The increased odds of homicide mortality per 5 °C increase in Tmax at lag-0 and Tmin at lag-1 were 4.9 % (95%CI: 1.6 %-8.1 %) and 6.2 % (95%CI: 1.6 %-11.0 %), respectively. No air pollutant associations were statistically significant. Temperature associations were robust after adjustment for PM2.5. Some temperature effects were larger among women for suicide and men for homicide mortality, and among those over age 65 years for both outcomes. CONCLUSION: Risk of suicide and homicide mortality increases with increasing daily ambient temperatures. Findings have public health relevance given anticipated increases in temperatures due to global climate change.

Morbidity in Late Preterm Birth: A Retrospective Cohort Study Assessing the Role of Immaturity versus Antecedent Factors.

INTRODUCTION: Late preterm infants (LPIs) are infants born between 340/7 and 366/7 weeks gestation. Morbidities in these infants are commonly considered a result of prematurity; however, some research has suggested immaturity may not be the sole cause of morbidities. We hypothesize that antecedents leading to late preterm birth are associated with different patterns of morbidities and that morbidities are the result of gestational age superimposed by the underlying etiologies of preterm delivery. METHODS: This is a retrospective cohort study of late preterm neonates born at a single tertiary care center. We examined neonatal morbidities including apnea of prematurity, hyperbilirubinemia, hypoglycemia, and the requirement for continuous positive airway pressure (CPAP). Multivariable logistic regression analysis was performed to estimate the risk of each morbidity associated with 3 categorized antecedents of delivery, that is, spontaneous preterm labor, preterm premature rupture of membranes (PPROM), and medically indicated birth. We calculated the predictive probability of each antecedent resulting in individual morbidity across gestational ages. RESULTS: 279 LPIs were included in the study. Decreasing gestational age was associated with significantly increased risk of apnea of prematurity, hyperbilirubinemia, and requirement of CPAP. In our cohort, the risk of hypoglycemia increased with gestational age, with the greatest incidence at 360-6 weeks. There was no significant association of risk of selected morbidities and the antecedents of late preterm delivery, with or without adjustment for gestational age, multiple gestation, small for gestational age (SGA), antenatal steroids, and delivery method. DISCUSSION AND CONCLUSION: This study found no difference in morbidity risk related to 3 common antecedents of preterm birth in LPIs. Our research suggests that immaturity is the primary factor in determining adverse outcomes, intensified by factors resulting in prematurity.