Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. Journal of inherited metabolic disease 2016; 39 (6): 821-829
Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can aid in identifying this condition, although their relationship to the clinical manifestations is not known. Herein we describe clinical and laboratory findings in two fraternal twins with hawkinsinuria who presented with failure to thrive and metabolic acidosis. Close clinical follow-up and laboratory testing revealed previously unrecognized hypoglycemia, hypophosphatemia, combined hyperlipidemia, and anemia, along with the characteristic urinary metabolites, including massive pyroglutamic aciduria. Treatment with N-acetyl-L-cysteine (NAC) restored normal growth and normalized or improved most biochemical parameters. The dramatic response to NAC therapy supports the idea that glutathione depletion plays a key role in the pathogenesis of hawkinsinuria.
View details for PubMedID 27488560
Engaging Pediatric Resident Physicians in Quality Improvement Through Resident-Led Morbidity and Mortality Conferences. Joint Commission journal on quality and patient safety / Joint Commission Resources 2016; 42 (3): 99-106
Increasingly, medical disciplines have used morbidity and mortality conferences (MMCs) to address quality improvement and patient safety (QI/PS), as well as teach systems-based improvement to graduate trainees. The goal of this educational intervention was to establish a pediatric resident physicianled MMC that not only focused on QI/PS principles but also engaged resident physicians in QI/ PS endeavors in their clinical learning environments.Following a needs assessment, pediatric resident physicians at the Stanford University School of Medicine (Stanford, California) established a new MMC model in February 2010 as part of a required QI rotation. Cases were identified, explored, analyzed, and presented by resident physicians using the Johns Hopkins Learning from Defects tool. Discussions during the MMCs were resident physician directed and systems-based, and resulted in projects to address care delivery. Faculty advisors assessed resident physician comprehension of QI/PS. Conferences were evaluated through the end of the 20122013 academic year and outcomes tracked through the 20132014 academic year to determine trainee involvement in systems change resulting from the MMCs.The MMC was well received and the number of MMCs increased over time. By the end of the 20132014 academic year, resident physicians were involved in address ing 14 systems-based issues resulting from 25 MMCs. Examples of the resident physicianinitiated improvement work included increasing use of the rapid response team, institution of a gastrostomy (g)-tube order set, and establishing a face-to-face provider handoff for pediatric ICUto-acute-care-floor transfers.A resident physicianrun MMC exposes resident physicians to QI/PS concepts and principles, enables direct faculty assessment of QI/PS knowledge, and can propel resident physicians into real-time engagement in the culture of safety in a complex hospital environment.
View details for PubMedID 26892704
Intern and Resident Workflow Patterns on Pediatric Inpatient Units: A Multicenter Time-Motion Study JAMA PEDIATRICS 2015; 169 (12): 1175-1177
Variation in printed handoff documents: Results and recommendations from a multicenter needs assessment JOURNAL OF HOSPITAL MEDICINE 2015; 10 (8): 517-524
Handoffs of patient care are a leading root cause of medical errors. Standardized techniques exist to minimize miscommunications during verbal handoffs, but studies to guide standardization of printed handoff documents are lacking.To determine whether variability exists in the content of printed handoff documents and to identify key data elements that should be uniformly included in these documents.Pediatric hospitalist services at 9 institutions in the United States and Canada.Sample handoff documents from each institution were reviewed, and structured group interviews were conducted to understand each institution's priorities for written handoffs. An expert panel reviewed all handoff documents and structured group-interview findings, and subsequently made consensus-based recommendations for data elements that were either essential or recommended, including best overall printed handoff practices.Nine sites completed structured group interviews and submitted data. We identified substantial variation in both the structure and content of printed handoff documents. Only 4 of 23 possible data elements (17%) were uniformly present in all sites' handoff documents. The expert panel recommended the following as essential for all printed handoffs: assessment of illness severity, patient summary, action items, situation awareness and contingency plans, allergies, medications, age, weight, date of admission, and patient and hospital service identifiers. Code status and several other elements were also recommended.Wide variation exists in the content of printed handoff documents. Standardizing printed handoff documents has the potential to decrease omissions of key data during patient care transitions, which may decrease the risk of downstream medical errors.
View details for DOI 10.1002/jhm.2380
View details for Web of Science ID 000358693600007
View details for PubMedID 26014471
Changes in Medical Errors after Implementation of a Handoff Program NEW ENGLAND JOURNAL OF MEDICINE 2014; 371 (19): 1803-1812
Placing Faculty Development Front and Center in a Multisite Educational Initiative: Lessons From the I-PASS Handoff Study ACADEMIC PEDIATRICS 2014; 14 (3): 221-224
Validity of respiratory scores in bronchiolitis. Hospital pediatrics 2012; 2 (4): 202-209
The primary objective of this study was to establish the validity and reliability of 2 respiratory scores, the Respiratory Distress Assessment Instrument (RDAI) and the Children's Hospital of Wisconsin Respiratory Score (CHWRS), in bronchiolitis. A secondary objective was to identify the respiratory score components that most determine overall respiratory status.This was a prospective cohort study in infants aged < 1 year seen at Children's Hospital of Wisconsin for bronchiolitis. We evaluated: (1) discriminative validity (the score's ability to discriminate between 2 different outcomes) of the respiratory scores to identify emergency department (ED) disposition by using receiver operating characteristic curves; and (2) construct validity (the score's ability to measure what it is thought to measure, overall respiratory status) by using length of stay (LOS) as a proxy for disease severity and comparing correlations between changes in respiratory scores and LOS. Interrater reliability was established by using intraclass correlation. The contribution of individual respiratory score components to determine ED disposition was studied by using multivariate logistic regression.A total of 195 infants were included. The area under the receiver operating characteristic curve was 0.68 for CHWRS versus 0.51 for RDAI in predicting disposition. There was no correlation between initial respiratory scores or change in respiratory scores over the first 24 hours and LOS. Item analysis revealed that oxygen delivery, subcostal retractions, and respiratory rate were independently correlated with ED disposition. The CHWRS was more reliable than the RDAI.The CHWRS had modest discriminative validity in predicting ED disposition. Neither the CHWRS nor the RDAI had good construct validity. Respiratory rate, oxygen need, and presence of retractions were most useful in predicting ED disposition.
View details for PubMedID 24313026
I-PASS, a Mnemonic to Standardize Verbal Handoffs PEDIATRICS 2012; 129 (2): 201-204
Establishing a Multisite Education and Research Project Requires Leadership, Expertise, Collaboration, and an Important Aim PEDIATRICS 2010; 126 (4): 619-622
Severe osteomyelitis caused by Myceliophthora thermophila after a pitchfork injury. Annals of clinical microbiology and antimicrobials 2006; 5: 21-?
Traumatic injuries occurring in agricultural settings are often associated with infections caused by unusual organisms. Such agents may be difficult to isolate, identify, and treat effectively.A 4-year-old boy developed an extensive infection of his knee and distal femur following a barnyard pitchfork injury. Ultimately the primary infecting agent was determined to be Myceliophthora thermophila, a thermophilic melanized hyphomycete, rarely associated with human infection, found in animal excreta. Because of resistance to standard antifungal agents including amphotericin B and caspofungin, therapy was instituted with a prolonged course of terbinafine and voriconazole. Voriconazole blood levels demonstrated that the patient required a drug dosage (13.4 mg/kg) several fold greater than that recommended for adults in order to attain therapeutic blood levels.Unusual pathogens should be sought following traumatic farm injuries. Pharmacokinetic studies may be of critical importance when utilizing antifungal therapy with agents for which little information exists regarding drug metabolism in children.
View details for PubMedID 16961922