Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant.

Metabolic pathways are known to generate byproducts-some of which have no clear metabolic function and some of which are toxic. Nicotinamide adenine dinucleotide phosphate hydrate (NAD(P)HX) is a toxic metabolite that is produced by stressors such as a fever, infection, or physical stress. Nicotinamide adenine dinucleotide phosphate hydrate dehydratase (NAXD) and nicotinamide adenine dinucleotide phosphate hydrate epimerase (NAXE) are part of the nicotinamide repair system that function to break down this toxic metabolite. Deficiency of NAXD and NAXE interrupts the critical intracellular repair of NAD(P)HX and allows for its accumulation. Clinically, deficiency of NAXE manifests as progressive, early onset encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) 1, while deficiency of NAXD manifests as PEBEL2. In this report, we describe a case of probable PEBEL2 in a patient with a variant of unknown significance (c.362C>T, p.121L) in the NAXD gene who presented after routine immunizations with significant skin findings and in the absence of fevers.

Changes in attitudes, beliefs, and experiences related to pregnancy during graduate medical education training from 2005 to 2021.

Today, 50% of medical students are women, and residency and fellowship training years overlap with peak times for starting families. The authors describe attitudes toward pregnancy during residency and fellowship and report pregnancy rates and complications for female residents and resident partners across several decades. A web-based survey was emailed to 1,057 residents in 2005 (period 1) and 1,860 residents in 2021 (period 2). Anonymous surveys were sent to all trainees including pregnant trainees, affected co-trainees and trainee partners. Resident attitudes and pregnancy characteristics were compared between groups using the chi-square (χ2) test for categorical variables and the Kruskal-Wallis test for ordinal variables. A total of 442 residents (41.8%) responded to the 2005 survey, and 525 (28.2%) responded to the 2021 survey. Most residents who covered for a pregnant resident had positive feelings about covering for their colleagues during both time periods, although more positive attitudes were present during the period 2. Only about 10% of residents received compensation for their coverage during both time periods. Among residents with a pregnancy during training (i.e., themselves or partners), most characterized having a baby in training as "somewhat difficult" or "very difficult" at both time periods. Pregnancy complication rates were 33% and 44% for training years 2005 and 2021. As medical education evolves, training programs should be proactive in creating structured support systems for pregnant residents and resident partners to minimize adverse maternal and fetal outcomes and to improve training programs. Future studies are needed to elucidate the causality of higher-than-expected pregnancy complication rates.

Burnout During the COVID-19 Pandemic: A Report on Pediatric Residents.

BACKGROUND AND OBJECTIVE: The Pediatric Resident Burnout and Resilience Consortium (PRB-RSC) has described the epidemiology of burnout in pediatric residents since 2016. We hypothesized burnout rates during the pandemic would increase. We explored resident burnout during the COVID-19 pandemic and its relationship to resident perception of workload, training, personal life, and local COVID burden. METHODS: Since 2016, PRB-RSC has sent an annual, confidential survey to over 30 pediatric and medicine-pediatrics residencies. In 2020 and 2021, seven questions were added to explore the relationship of COVID-19 and perceptions of workload, training, and personal life. RESULTS: In 2019, 46 programs participated, 22 in 2020, and 45 in 2021. Response rates in 2020 (n = 1055, 68%) and 2021(n = 1702, 55%) were similar to those of previous years (P = .09). Burnout rates in 2020 were significantly lower than in 2019 (54% vs 66%, P < .001) but returned to pre-COVID levels in 2021 (65%, P = .90). In combined 2020-2021 data, higher rates of burnout were associated with reported increased workload (Adjusted Odds Ratio (AOR) 1.38, 95% CI 1.19-1.6) and concerns regarding the effect of COVID on training (AOR 1.35, 95% CI 1.2-1.53). Program-level county COVID burden in combined 2020-2021 data was not associated with burnout in this model (AOR=1.03, 95% CI 0.70-1.52). CONCLUSIONS: Burnout rates within reporting programs decreased significantly in 2020 and returned to prepandemic levels in 2021. Increased burnout was associated with perceived increases in workload and concerns regarding effect of the pandemic on training. Given these findings, programs should consider further investigation into workload and training uncertainty on burnout.

Artificial Intelligence Assesses Clinicians' Adherence to Asthma Guidelines Using Electronic Health Records.

BACKGROUND: Clinicians' asthma guideline adherence in asthma care is suboptimal. The effort to improve adherence can be enhanced by assessing and monitoring clinicians' adherence to guidelines reflected in electronic health records (EHRs), which require costly manual chart review because many care elements cannot be identified by structured data. OBJECTIVE: This study was designed to demonstrate the feasibility of an artificial intelligence tool using natural language processing (NLP) leveraging the free text EHRs of pediatric patients to extract key components of the 2007 National Asthma Education and Prevention Program guidelines. METHODS: This is a retrospective cross-sectional study using a birth cohort with a diagnosis of asthma at Mayo Clinic between 2003 and 2016. We used 1,039 clinical notes with an asthma diagnosis from a random sample of 300 patients. Rule-based NLP algorithms were developed to identify asthma guideline-congruent elements by examining care description in EHR free text. RESULTS: Natural language processing algorithms demonstrated a sensitivity (0.82-1.0), specificity (0.95-1.0), positive predictive value (0.86-1.0), and negative predictive value (0.92-1.0) against manual chart review for asthma guideline-congruent elements. Assessing medication compliance and inhaler technique assessment were the most challenging elements to assess because of the complexity and wide variety of descriptions. CONCLUSIONS: Natural language processing technologies may enable the automated assessment of clinicians' documentation in EHRs regarding adherence to asthma guidelines and can be a useful population management and research tool to assess and monitor asthma care quality. Multisite studies with a larger sample size are needed to assess the generalizability of these NLP algorithms.

Inpatient pediatric chaplain service utilization among children with chronic, non-cancer diseases.

Despite the broad importance of pediatric spiritual care, most research focuses on oncologic and palliative care contexts. We aim to describe the utilization of pediatric chaplain services by children hospitalized for non-cancer chronic illnesses and to identify factors that predict utilization of chaplain services. Among 629 patients with 915 admissions, we found chaplain services were utilized in 5.0% of admissions. Utilization was similar between religiously affiliated patients (7.5%, 95%CI [5.3-10.6%]) and un-affiliated patients (6.4%, [3.6-11.0%]). Christian patients (7.3% [5.1-10.5%]) demonstrated similar utilization as non-Christian patients (7.0% [4.3-11.2%]). Utilization was significantly higher among patients with LOS >2 days (10.8% [7.9-14.6%]), compared to LOS ≤2 (1.7% [0.9-3.1%]). These results may represent an addressable gap in spiritual care, and they highlight an opportunity for pediatric chaplains to play a larger role in the holistic care of hospitalized children with chronic diseases, regardless of religious affiliation.

COVID-19 Care Clinic in a Medical Center: Lessons Learned.

OBJECTIVE: The purpose of this report is to describe the elements of a Covid-19 Care Clinic (CCC), patient demographics, and outcomes. METHODS: Descriptive statistics were used to describe demographics, clinical characteristics, and outcomes. This report is based on 4934 unique patients seen in the CCC who provided research authorization within a 10-month period of time (April 1, 2020-January 31, 2021). The CCC infection control processes consisted of a rooming process that mitigated SARS-COV-2 transmission, preparing examination rooms, using PPE by staff, in room lab drawing, and escorting services to minimize the time in clinic. RESULTS: Of the 4934 unique patients seen (age range newborn-102 years), 76.8% were tested for COVID-19. Of those tested, 11.8% were positive for SARS-CoV-2. Ninety-two percent of the patients with the reason for the visit documented had COVID-19 type symptoms. Cough, shortness of breath, and chest pain were the most common presenting symptom in those with COVID-19. At the time of the visit in the CCC, 5.8% of the patients were actively contagious. Thirty days after being seen in the CCC, 9.1% of the patients were seen in the emergency department (ED) and 0.2% died. During the 10-month period there were no known occupationally related COVID-19 infections. CONCLUSION: The COVID-19 Care Clinic provided face-to-face access for all ages with COVID-19 type symptoms. A minority of patients had COVID-19 who were seen in the clinic. The clinic provided an additional venue of care outside of the ED. The infectious control measures employed were highly effective in protecting the staff. Lessons learned allow for decentralization of COVID-19 symptom care to the primary care practices employing the infection control measures.

Acute Otitis Media and Group A Streptococcal Pharyngitis: A Review for the General Pediatric Practitioner.

For pediatric practitioners, acute otitis media (AOM) and group A streptococcal pharyngitis are two of the most common infections seen in ambulatory practices. The purpose of this article is to review these conditions with the focus of highlighting evidence-based guidelines. AOM in children is a visual diagnosis and not one that can be made on history alone. The American Academy of Pediatrics (AAP) guidelines have clear criteria to aid clinicians in how to diagnose AOM. The pneumatic otoscope is the standard tool used to diagnose otitis media, and the AAP guidelines stress developing proficiency in distinguishing a normal tympanic membrane from otitis media with effusion or AOM. There are several components to appropriate management (treatment) of AOM including analgesia, education, antibiotics, and the option (for some) for observation. Group A streptococcal pharyngitis is the most common bacterial cause of sore throat in children but still only accounts for a minority of cases. History and physical examination help determine who should be tested. Testing is required to determine who to treat. Up to 15% of children in the United States are carriers, so indiscriminate testing can lead to inappropriate antibiotic use. If a patient's test is positive, treatment is recommended and penicillin or amoxicillin are appropriate for most cases. [Pediatr Ann. 2019;48(9):e343-e348.].

Productive Pumping: A Pilot Study to Help Postpartum Residents Increase Clinical Time.

BACKGROUND: Many female residents choose to start families during training, and they want to breastfeed their infants. Continuing lactation while balancing service and education demands can be challenging. OBJECTIVE: We hypothesized that the presence of a dedicated and fully equipped lactation room with a hospital-grade pump (HGP) would increase ease and efficiency of lactation during residency. METHODS: A quiet HGP was purchased for resident use, and it was stored in a designated room with a computer, telephone, and dictation system. Lactating residents provided information about pumping time and production using their own portable double electric pump (PP) versus the HGP based on the first pump of the morning (for consistency), averaged over the first month back from maternity leave. RESULTS: Among 6 residents, lactation time with PP averaged 24 minutes (range, 15-40 minutes) versus 15.5 minutes with HGP (range, 10-32 minutes). Use of the HGP reduced total pumping time by 8.5 minutes (95% confidence interval 3.8-12.2, P = .045). Production volume increased from 6 ounces (range, 3.5-8.5 ounces) with PP to 8.8 ounces (range, 8-11 ounces) with HGP, for a mean increase of 2.8 ounces (95% confidence interval 1.2-4.3, P = .06) despite decreased lactation time. CONCLUSIONS: In our pilot, an HGP significantly decreased lactation time, while increasing expressed milk volume. Residents completed clinical and educational tasks while pumping. Providing an HGP and equipped lactation space helped residents continue breastfeeding and decreased the burden of lactation on patient care and educational tasks.

Duration of Group A Streptococcus PCR positivity following antibiotic treatment of pharyngitis.

BACKGROUND: Polymerase chain reaction (PCR) has high sensitivity and specificity for detection of group A streptococcus (GAS) in throat swabs and is routinely used for GAS pharyngitis diagnosis at our institution. Herein we defined the natural history of throat swab GAS PCR and culture positivity during and following treatment of GAS pharyngitis. METHODS: Fifty children with a PCR positive GAS throat swab were recruited for participation. Four additional throat swabs were collected over 2 weeks following the initial positive PCR result (during and following a standard course of antibiotic therapy) and tested for GAS using rapid real-time PCR and culture. RESULTS: After the initial positive swab, 45% had a positive PCR 2-4 days, 20% 5-7 days, 18% 8-10 days, 25% 11-13days, and 20% 14-18days later. The median time to a negative PCR was 4 days with the nadir in positive PCR results approximating the end of a typical 10-day treatment interval. Seven subjects remained persistently PCR positive. Culture results remained positive at a stable rate for each time interval, ranging from 5-10%. CONCLUSIONS: If a patient presents with symptoms of GAS pharyngitis after previous positive GAS PCR testing and treatment with appropriate antibiotics, it is reasonable to use PCR testing for GAS pharyngitis testing beginning one week after initial testing. Further studies are warranted to determine if this time frame can be applied to PCR testing used to detect other infections.

Keeping an Open Mind: Cognitive Bias in the Evaluation of an Infant with Posterior-Lateral Rib Fractures.

A four-month-old former premature male is incidentally found to have posterior-lateral rib fractures during evaluation of a febrile illness. This finding led to the initiation of a workup for nonaccidental trauma. A thorough history and physical exam ultimately led to the diagnosis, which was not related to abuse. This case highlights a rare sequela of patent ductus arteriosus repair, cautions medical teams to remain aware of how cognitive bias can affect diagnostic decision-making, and emphasizes the importance of a thorough history, physical exam, and medical record review in cases of suspected nonaccidental trauma.

Equal performance of self-collected and health care worker-collected pharyngeal swabs for group a streptococcus testing by PCR.

A process employing patient- or parent-collected pharyngeal swabs for group A Streptococcus (GAS) testing would expedite diagnosis and treatment, reduce patient exposure to the health care setting, and decrease health care costs. Our aim was to determine the concordance between patient- or parent-collected (self-collected) and health care worker (HCW)-collected pharyngeal swabs for detection of GAS by PCR. From 9 October 2012 to 21 March 2013, patients presenting with a sore throat meeting criteria for GAS testing and not meeting criteria for severe disease were offered the opportunity to collect their own pharyngeal swab. The HCW also collected a swab. Paired swabs were tested by GAS real-time PCR, allowing semiquantitative comparisons between positive results. Of the 402 participants, 206 had a swab collected by the patient and 196 a swab collected by the parent. The percent positivity results were 33.3% for HCW-collected swabs and 34.3% for self-collected swabs (P = 0.41). The overall concordance between the two collection strategies was 94.0% (95% confidence interval [CI], 91.3 to 96.0). Twenty-four of the paired swabs had discordant results, with 10 and 14 positives detected only with the HCW- and self-collected swabs, respectively (P = 0.41). The person collecting the swab in the self-collected arm, the order of collection, and prior swab collection training did not influence results. Among the 124 specimens that were positive by both collection methods, the amount of GAS DNA was higher in the self-collected versus the HCW-collected swabs (P = 0.008). Self-collected pharyngeal swabs provide a reliable alternative to HCW collection for detection of GAS and offer a strategy for improved health care delivery.

Using tablet computers to teach evidence-based medicine to pediatrics residents: a prospective study.

OBJECTIVE: We sought to determine if tablet computers-supported by a laboratory experience focused upon skill-development-would improve not only evidence-based medicine (EBM) knowledge but also skills and behavior. METHODS: We conducted a prospective cohort study where we provided tablet computers to our pediatric residents and then held a series of laboratory sessions focused on speed and efficiency in performing EBM at the bedside. We evaluated the intervention with pre- and postintervention tests and surveys based on a validated tool available for use on MedEdPORTAL. The attending pediatric hospitalists also completed surveys regarding their observations of the residents' behavior. RESULTS: All 38 pediatric residents completed the preintervention test and the pre- and postintervention surveys. All but one completed the posttest. All 7 attending pediatric hospitalists completed their surveys. The testing, targeted to assess EBM knowledge, revealed a median increase of 16 points out of a possible 60 points (P < .0001). We found substantial increases in individual resident's test scores across all 3 years of residency. Resident responses demonstrated statistically significant improvements in self-reported comfort with 6 out of 6 EBM skills and statistically significant increases in self-reported frequencies for 4 out of 7 EBM behaviors. Attending pediatric hospitalists reported improvements in 5 of 7 resident behaviors. CONCLUSIONS: This novel approach for teaching EBM to pediatric residents improved knowledge, skills, and behavior through the introduction of a tablet computer and laboratory sessions designed to teach the quick and efficient application of EBM at the bedside.

Association of volume of patient encounters with residents' in-training examination performance.

BACKGROUND: Patient care and medical knowledge are Accreditation Council for Graduate Medical Education (ACGME) core competencies. The correlation between amount of patient contact and knowledge acquisition is not known. OBJECTIVE: To determine if a correlation exists between the number of patient encounters and in-training exam (ITE) scores in internal medicine (IM) and pediatric residents at a large academic medical center. DESIGN: Retrospective cohort study PARTICIPANTS: Resident physicians at Mayo Clinic from July 2006 to June 2010 in IM (318 resident-years) and pediatrics (66 resident-years). METHODS: We tabulated patient encounters through review of clinical notes in an electronic medical record during post graduate year (PGY)-1 and PGY-2. Using linear regression models, we investigated associations between ITE score and number of notes during the previous PGY, adjusted for previous ITE score, gender, medical school origin, and conference attendance. KEY RESULTS: For IM, PGY-2 admission and consult encounters in the hospital and specialty clinics had a positive linear association with ITE-3 % score (ß = 0.02; p = 0.004). For IM, PGY-1 conference attendance is positively associated with PGY-2 ITE performance. We did not detect a correlation between PGY-1 patient encounters and subsequent ITE scores for IM or pediatric residents. No association was found between IM PGY-2 ITE score and inpatient, outpatient, or total encounters in the first year of training. Resident continuity clinic and total encounters were not associated with change in PGY-3 ITE score. CONCLUSIONS: We identified a positive association between hospital and subspecialty encounters during the second year of IM training and subsequent ITE score, such that each additional 50 encounters were associated with an increase of 1 % correct in PGY-3 ITE score after controlling for previous ITE performance and continuity clinic encounters. We did not find a correlation for volume of encounters and medical knowledge for IM PGY-1 residents or the pediatric cohort.

Multifocal septic arthritis with Group A Streptococcus secondary to nasal septal abscess.

This report describes a previously healthy adolescent male who developed a nasal septal abscess following trauma and subsequent multifocal arthritis with Group A Streptococcus requiring surgery and prolonged antibiotics. This sequence of events has not been previously described in the literature. This report highlights the importance of early recognition and treatment of traumatic nasal septal hematoma to reduce the risk of suppurative complications.

Family functioning and maternal distress in adolescent girls with anorexia nervosa.

OBJECTIVE: To determine the nature of family distress in families of girls with anorexia nervosa (AN), this study compared aspects of family functioning in adolescent girls with AN to girls with a chronic illness and girls without a condition. METHOD: Participants consisted of 25 adolescent girls with a primary DSM-IV diagnosis of AN, 20 girls with an ICD-10 diagnosis of insulin dependent diabetes mellitus (IDDM), and 20 girls from the community. Mothers and daughters completed questionnaires of family functioning and psychological symptoms. RESULTS: When compared with mothers of daughters with IDDM, families of girls with AN experienced greater family conflict, reduced parental alliance, and increased feelings of depression. However, once the emotional impact of the illness on the mothers was statistically controlled, group differences were no longer significant. DISCUSSION: Family distress and dysfunction may reflect an accommodation process that occurs in families living with a child with AN.