Faculty Bibliography

One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 in 94% of patients and mutations in the NOTCH2 receptor in <1% of patients. This is a retrospective case series studying infants with neonatal cholestasis found to have variants of unknown significance (VOUS) in NOTCH2. Sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen) were utilized to predict a damaging effect. Five infants with NC without other features of Alagille syndrome were found to have one copy of a VOUS in NOTCH2, predicted to be damaging by SIFT and PolyPhen. Our cases support the notion that NOTCH2 mutations may result in hypoplastic biliary system. Further characterization of these variants is important to assist with our clinical approach to NC.

BACKGROUND:Nonalcoholic fatty liver disease (NAFLD) is strongly associated with obesity and is the most common liver disease in the developed world. In children with suspected NAFLD, present guidelines suggest consideration of alternative diagnoses via extensive blood testing, though the yield of this work up is unknown. Furthermore, the gold standard diagnostic test for NAFLD remains liver biopsy, making the development of non-invasive tests critically important. OBJECTIVES:Our objectives are: 1) to determine the accuracy of elastography and multiple serum biomarkers - each assessed individually and as algorithms (including those previously tested in adults) - for the diagnosis of nonalcoholic steatohepatitis (NASH) and early fibrosis in children and (2) to examine the utility of extensive testing for rare alternative diagnoses in overweight or obese children with elevated alanine aminotransferase (ALT) suspected to have NAFLD. DESIGN:This is an ongoing, cross-sectional study in children 2-18 years of age with up to 2 years of prospective follow up. Eligible patients are asymptomatic, overweight or obese, and have an ALT ≥35 U/L upon enrollment. Two forms of elastography are obtained serially along with anthropometric data and routine laboratory tests. Elastography and serum biomarkers are also performed immediately prior to any clinically-indicated biopsy. METHODS:Between April 2015 and April 2018, 193 children have been enrolled in this ongoing study and 71 have undergone liver biopsy. Here we carefully report the rationale, methodology, and preliminary data for this study.

Neonatal liver disease is an important source of morbidity in the pediatric population. The manifestation of liver disease in young infants may be different than in older patients, and there are a number of diagnoses that are unique to this age group. Familiarity with these entities is important as imaging plays a key role in the diagnostic workup, and prompt diagnosis is necessary to prevent complications. This article reviews the spectrum of liver pathologies that can manifest in the first 6 months of life and is intended to educate the general radiologist who may be faced with interpretation of neonatal liver imaging. Categories of disease that will be reviewed include cholestatic diseases, tumors, vascular anomalies, and acquired diseases. The authors will also review optimization of ultrasonography (US) and magnetic resonance imaging of the liver and present a systematic method for interpretation of neonatal liver US findings in the context of clinical and laboratory findings. ^© RSNA, 2017.

BACKGROUND: Failure to attend pediatric outpatient endoscopic procedures leads to inefficient use of resources, longer wait-list times and delay in diagnoses. The causes for pediatric endoscopy non-attendance are not well studied. OBJECTIVES: To identify factors associated with failure to attend endoscopic procedures and to assess the value of quality improvement interventions implemented to improve pediatric endoscopy attendance. METHODS: This was a continuous quality improvement project. We collected non-attendance data from November 2011 to November 2013. Information collected included: procedure type, age, gender, time on the waiting list, history of previous procedures and reason for non-attendance. The following quality improvement interventions were implemented sequentially: an appointment reminder letter, a telephone call 1 week prior to procedure and creation of an electronic medical note dedicated to endoscopy appointment. Pareto charts and statistical process control chart were used for analysis. RESULTS: From November 2011 to November 2013 we were able to decrease non-attendance from 17% to 11% (p = 0.005). No show rate was reduced from 5% to 0.9% (p = 0.00001). There was no significant difference between attendees and non-attendees in relation to gender, age or having a previous procedure. Longer waiting time (33 vs 26 days) was associated with increased risk for non-attendance (p = 0.0007).The most common causes for non-attendance were: illness (31.5%), followed by caregiver/patients who no longer wanted the procedure (17.7%) and patients who improved (12.9%). CONCLUSIONS: Applying quality improvement methods and tools improved pediatric endoscopy attendance. Longer wait-time for endoscopic procedures is associated with non-attendance. Given the increased pediatric endoscopy demand, strategies should be implemented to reduce wait time for pediatric endoscopy.