Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility.

Congenital anomalies of the kidney and urinary tract (CAKUT) are estimated to be responsible for 20%-50% of congenital anomalies and are also a leading etiology of early-onset renal disease. Primary CAKUT are caused by genetic factors that impair proper in-utero genitourinary tract development and secondary CAKUT result from the influence of environmental factors. The CHRNA3 gene, which encodes the Alpha-3 subunit of the nicotinic acetylcholine receptor, is hypothesized to be associated with Megacystis-microcolon-intestinal hyperperistalsis syndrome. More recently, pathogenic variants in CHRNA3 have been identified in individuals with CAKUT as well as individuals with panautonomic failure. Here we present a patient with neurogenic bladder, vesicoureteral reflux, mydriasis, and gastrointestinal dysmotility found to have novel compound heterozygous variants in CHRNA3. These findings support the consideration of CHRNA3 disruption in the differential for CAKUT with dysautonomia and gastrointestinal dysmotility.

A novel method of teaching surgical techniques to residents--computerized enhanced visual learning (CEVL) with simulation to certify mastery of training: a model using newborn clamp circumcision.

OBJECTIVE: To assess the learning process of combining a web-based video of a simulated surgical procedure with a step-by-step checklist of the same procedure in achieving competency of the simulated technique, in this case a newborn clamp circumcision. Fundamental to this particular learning process is immediate mentor step-by-step feedback which specifically follows the procedure's step-by-step checklist. MATERIALS AND METHODS: Pediatric residents naïve to newborn circumcision were enrolled (n = 7). A circumcision simulator, instruments, and web access to the learning module were provided. Residents trained independently and then performed two simulations with the mentor. The first simulation was completed with formative scored feedback. The learner then performed a second scored simulation. RESULTS: All learners showed improvement between the first and second simulation (mean 85.3-97.4). All residents achieved competency (96/100 or greater) by the second simulation. On post-procedure surveys, learners demonstrated increased comfort and reduced apprehension in performing the procedure. CONCLUSION: Combining a web-accessible video of a procedure, a checklist, and a simulator followed by a single mentor session with immediate formative feedback which follows the steps of the checklist is a useful method to teach the simulation technique of circumcision. We plan to study if this paradigm is transferable to clinical circumcision.