Recent Publications by CFE Educators

OBJECTIVES

Hearing-loss gene panel testing (HLGPT) is increasingly accessible as a first-line test in determining the etiology of sensorineural hearing loss (SNHL) in children. A major advantage of HLGPT is early identification of syndromic forms of SNHL, especially Usher syndrome, prior to the development of overt syndromic phenotype, which may impact management and counseling. Here, we describe early ocular findings in children with clinically non-syndromic SNHL identified by HLGPT as having two variants associated with Usher Syndrome.

METHODS

A total of 184 children, ages 1 month - 15 years of age, evaluated at one tertiary pediatric children's hospital for clinically non-syndromic SNHL, underwent next-generation sequencing of 150 genes involved in hearing loss. Children with two variants in genes associated with Usher syndrome were referred for evaluation by pediatric ophthalmology.

RESULTS

A total of 18/184 tested children had two variants in Usher syndrome-associated genes, including MYO7A, GPR98 (ADGRV1), USH2A, and PDZD7. SNHL varied from moderate to profound. 29% of the children who underwent clinical ophthalmology evaluation were found to have previously unidentified retinal abnormalities on retinal imaging or electroretinography consistent with inherited retinal degeneration.

CONCLUSION

Among this ethnically and racially diverse pediatric population with apparently non-syndromic SNHL, HLGPT yielded a high proportion (10%) of children with two variants in genes associated with Usher syndrome. Early genetic testing allows early identification of variants conferring a diagnosis of Usher syndrome at a stage prior to visual symptoms. This allows for more informed genetic counseling, reproductive planning, and sensory deficit interventions.

LEVEL OF EVIDENCE

Level 4 Laryngoscope, 2020.

Pathways guide clinicians through evidence-based care of specific conditions. Pathways have been demonstrated to improve pediatric asthma care, but mainly in studies at tertiary children's hospitals. Our global aim was to enhance the quality of asthma care across multiple measures by implementing pathways in community hospitals.

METHODS

This quality improvement study included children ages 2-17 years with a primary diagnosis of asthma. Data were collected before and after pathway implementation (total 28 mo). Pathway implementation involved local champions, educational meetings, audit/feedback, and electronic health record integration. Emergency department (ED) measures included severity assessment at triage, timely systemic corticosteroid administration (within 60 mins), chest radiograph (CXR) utilization, hospital admission, and length of stay (LOS). Inpatient measures included screening for secondhand tobacco and referral to cessation resources, early administration of bronchodilator via metered-dose inhaler, antibiotic prescription, LOS, and 7-day readmission/ED revisit. Analyses were done using statistical process control.

RESULTS

We analyzed 881 ED visits and 138 hospitalizations from 2 community hospitals. Pathways were associated with increases in the proportion of children with timely systemic corticosteroid administration (Site 1: 32%-57%, Site 2: 62%-75%) and screening for secondhand tobacco (Site 1: 82%-100%, Site 2: 54%-89%); and decreases in CXR utilization (Site 1: 44%-29%), ED LOS (Site 1: 230-197 mins), and antibiotic prescription (Site 2: 23%-3%). There were no significant changes in other outcomes.

CONCLUSIONS

Pathways improved pediatric asthma care quality in the ED and inpatient settings of community hospitals.

BACKGROUND AND AIMS

There are limited data on hepatocellular carcinoma (HCC) growth patterns, particularly in Western cohorts, despite implications for surveillance, prognosis, and treatment. Our study's aim was to quantify tumor doubling time (TDT) and identify correlates associated with indolent and rapid growth.

APPROACH AND RESULTS

We performed a retrospective multicenter cohort study of patients with cirrhosis diagnosed with HCC from 2008 to 2017 at six US and European health systems with two or more contrast-enhanced imaging studies performed ≥ 30 days apart prior to HCC treatment. Radiologists independently measured tumors in three dimensions to calculate TDT and specific growth rate (SGR). We used multivariable ordinal logistic regression to identify factors associated with indolent (TDT > 365 days) and rapid (TDT  90 days) tumor growth. In the primary cohort (n = 242 patients from four centers), median TDT was 229 days (interquartile range [IQR], 89-627) and median SGR was 0.3% per day (IQR, 0.1%-0.8%). Over one-third (38%) of HCCs had indolent growth, 36.8% intermediate growth, and 25.2% rapid growth. In multivariable analysis, indolent growth was associated with larger tumor diameter (odds ratio [OR], 1.15, 95% confidence interval [CI], 1.03-1.30) and alpha-fetoprotein  20 ng/mL (OR, 1.90; 95% CI, 1.12-3.21). Indolent growth was more common in nonviral than viral cirrhosis (50.9% versus 32.1%), particularly in patients with T1 HCC (OR, 3.41; 95% CI, 1.08-10.80). Median TDT (169 days; IQR 74-408 days) and SGR (0.4% per day) were similar in an independent cohort (n = 176 patients from two centers).

CONCLUSIONS

In a large Western cohort of patients with HCC, we found heterogeneous tumor growth patterns, with one-fourth exhibiting rapid growth and over one-third having indolent growth. Better understanding different tumor growth patterns may facilitate a precision approach to prognostication and treatment.

Endotracheal intubation (EI) is a potentially lifesaving but high-risk procedure in critically ill patients. While the ACGME mandates that trainees in pulmonary and critical care medicine (PCCM) achieve competence in this procedure, there is wide variation in EI training across the USA. One study suggests that 40% of the US PCCM trainees feel they would not be proficient in EI upon graduation. This article presents a review of the EI training literature; the recommendations of a national group of PCCM, anesthesiology, emergency medicine, and pediatric experts; and a call for further research, collaboration, and consensus guidelines.