Faculty Bibliography

Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic resonance imaging (MRI) has not been used for myocardial characterization. Ten patients with genetically confirmed ANO5-RD were enrolled in a phenotyping study to better characterize cardiac involvement. Evaluations included medical history, neurological examination and cardiac evaluations (electrocardiogram, echocardiogram and cardiac MRI). All patients were clinically asymptomatic from a cardiac perspective. Muscle MRI was consistent with previous studies of ANO5-RD with increased T1 signal in the posterior and medial compartments of the upper leg and the posterior compartment of the lower leg. Cardiac studies using echocardiography and cardiac MRI revealed dilation of the aortic root and thickening of the aortic valve without significant stenosis in 3/10 patients. There was evidence of abnormal late gadolinium enhancement (LGE) on cardiac MRI in 2/10 patients. In ANO5-RD, the development of cardiac fibrosis, edema or inflammation as demonstrated by LGE has not yet been reported. Cardiac MRI can characterize cardiac tissue and may detect subtle changes before they appear on echocardiography, with potential prognostic implications.

Background/UNASSIGNED:Patient-to-physician continuity is the result of coordinated and consistent care. Optimizing continuity can be a challenge in medical training without impacting work hours. We sought to use quality improvement science during graduate medical training to increase outpatient continuity. Objective/UNASSIGNED:The primary goal was to improve outpatient continuity in our pediatric cardiology fellowship, without increasing trainee clinic hours, from a baseline of 38% to ≥70% within 18 months. Methods/UNASSIGNED:Our fellowship conducted a quality improvement project across 3 years to improve continuity-of-care in our outpatient clinic using the Institute for Healthcare Improvement model for improvement. We conducted Plan-Do-Study-Act cycles and completed a key driver diagram using a multidisciplinary team. We defined continuity as a patient being evaluated by their primary fellow or a different fellow that was provided a handoff. The outcome measure was the continuity rate over 2-week periods. Results/UNASSIGNED:Continuity improved from 38% to ≥80%. The improvement resulted from a series of interventions, including creating a handoff system among fellows, identifying follow-up patients in advance, and communicating this information to the clinic team. Although we anticipated a decrease when new fellows were incorporated, continuity continued to be ≥70%. This system retained continuity above 90% one year after completion of the project. Conclusions/UNASSIGNED:Our fellowship created a system change to improve primary patient-to-fellow continuity care rates. We achieved sustainable continuity by working with a multidisciplinary team without altering staffing, infrastructure, or fellow work hours. This project engaged trainees to address the practical application of quality improvement methodology to solve a common clinical problem.

Kawasaki disease is a well-known cause of acquired cardiac disease in the pediatric and adult population, most prevalent in Japan but also seen commonly in the United States. In the era of intravenous immunoglobulin (IVIG) treatment, the morbidity associated with this disease has decreased, but it remains a serious illness. Here we present the case of an adolescent, initially diagnosed with Kawasaki disease as an infant, that progressed to giant aneurysm formation and calcification of the coronary arteries. We review his case and the literature, focusing on the integral role of multimodality imaging in managing Kawasaki disease.

We report a 2-month-old child with galactosemia and falsely high glucose readings with a glucometer using mutant variant of quinoprotein glucose dehydrogenase (MutQ-GDH) chemistry. Potentially fatal hypoglycemia could have been induced in the child if insulin infusion had been initiated as per glycemic management protocol. Even though, the product information with the glucometer carries warning regarding interference by high galactose levels, the awareness regarding this interaction is generally poor in many practice settings. Although, false readings have been reported with glucose dehydrogenase pyrroloquinoline quinone (GDH-PQQ) glucometers, to our knowledge this is the first case report of a falsely high glucose reading due to high galactose in a proven case of galactosemia with a glucometer using the MutQ-GDH chemistry (a modified GDH-PQQ chemistry). Our experience has prompted us to write this case report and we suggest avoiding these glucometers in neonates and infants when a metabolic disease is suspected.

BACKGROUND:The goal of our study is to examine the effect of stimulating a two-dimensional sheet of myocardial cells. We assume that the stimulating electrode is located in a bath perfusing the tissue. METHODS:An equation governing the transmembrane potential, based on the continuity equation and Ohm's law, is solved numerically using a finite difference technique. RESULTS:The sheet is depolarized under the stimulating electrode and is hyperpolarized on each side of the electrode along the fiber axis. CONCLUSIONS:The results are similar to those obtained previously by Sepulveda et al. (Biophys J, 55: 987-999, 1989) for stimulation of a two-dimensional sheet of tissue with no perfusing bath present.