Zachary Kornberg

Familial Cortical Myoclonus with a Mutation in NOL3

Myoclonus is characterized by sudden, brief involuntary movements, and its presence is debilitating. We identified a family suffering from adult onset, cortical myoclonus without associated seizures. We performed clinical, electrophysiological, and genetic studies to define this phenotype.

Risk Factors for the Development of Bladder and Bowel Dysfunction

We conducted a secondary data analysis of 2 trials to collect prospective measurements of BBD to determine independent risk factors. BACKGROUND: Patients with vesicoureteral reflux and concomitant bladder and bowel dysfunction (BBD) are at high risk for febrile urinary tract infections. Risk factors for BBD have been identified in retrospective studies without validated measures. METHODS: We conducted a secondary analysis of the Randomized Intervention for Children with Vesicoureteral Reflux and Careful Urinary Tract Infection Evaluation trials. The outcome of interest in the analysis of these children was the development of BBD, defined by using the dysfunctional voiding questionnaire, during any time point in the studies. We used multivariable logistic regression to determine the independent effects of sex, baseline percentile BMI, cohort status (Randomized Intervention for Children with Vesicoureteral Reflux versus Careful Urinary Tract Infection Evaluation), continuous antibiotic prophylaxis (yes or no), and reflux status (dilating versus nondilating) on the development of BBD. RESULTS: Three hundred and eighteen patients met inclusion criteria. The majority of patients (244 patients, 77%) were not toilet trained at baseline visit. The median baseline age (interquartile range) was 21 months (11–35 months), and 299 (94%) patients were girls. During the study period, 111 (35%) developed BBD. Baseline BMI percentile was not associated with BBD development (adjusted odds ratio [aOR] = 1.0; 95% confidence interval [CI]: 0.9–1.1), whereas female sex was highly associated with BBD development (aOR = 12.7; 95% CI: 1.6–98). Patients with dilating reflux at baseline were 2.1 times more likely to develop BBD (95% CI: 1.2–3.7). Antibiotic prophylaxis was not associated with BBD development (aOR = 0.8; 95% CI: 0.4–1.4). CONCLUSIONS: Dilating reflux and female sex were identified as risk factors for development of BBD, but neither BMI nor prophylactic antibiotics was associated with the development of BBD.

Genomic Prostate Score, PI-RADSv2, and Progression in Men with Prostate Cancer on Active Surveillance

Purpose: The OncotypeDx® GPS (Genomic Prostate Score®) is a 17-gene RNA expression assay intended to help guide treatment decisions in men diagnosed with prostate cancer. The PI-RADS™ (Prostate Imaging Reporting and Data System) version 2 was developed to standardize the risk stratification of lesions identified on multiparametric prostate magnetic resonance imaging. We sought to determine whether these tests are associated with an increased risk of biopsy upgrading in men on active surveillance. Materials and Methods: We identified all patients on active surveillance at the University of California-San Francisco who had low/intermediate risk prostate cancer (prostate specific antigen 20 ng/ml or less and clinical stage T1/T2) and Gleason score 6 disease who underwent multiple biopsies and had a GPS available and/or had undergone multiparametric prostate magnetic resonance imaging with an available PI-RADS version 2 score. The primary study outcome was biopsy upgrading, defined as an increase in the Gleason score from 3 + 3 to 3 + 4 or greater, which was analyzed by Cox proportional hazards regression. Results: Of the men 140 had only GPS test findings, 169 had only a PI-RADS version 2 score and 131 had both data. Each 5-unit increase in the GPS was associated with an increased risk of biopsy upgrading (HR 1.28, 95% CI 1.19–1.39, p <0.01). PI-RADS scores of 5 vs 1-2 (HR 4.38, 95% CI 2.36–8.16, p <0.01) and 4 vs 1-2 (HR 2.62, 95% CI 1.45–4.76, p <0.01) were also associated with an increased risk of a biopsy upgrade. On subanalysis of patients with GPS and PI-RADS version 2 scores the GPS was associated with biopsy upgrading, adding value to the clinical covariates (partial likelihood ratio p = 0.01). Conclusions: A higher GPS or a PI-RADS version 2 score of 4 or 5 was associated with an increased risk of biopsy upgrading.

Virtual glucose management service: a novel resident educational tool

form of a booklet containing the reflections of others and an area for self-reflection by graduating students. What was tried? Patients, doctors and other health professionals were interviewed and asked only two questions: What are the qualities of a ‘good’ doctor? What are the qualities of a ‘not so good’ doctor? Various themes emerged amongst the different groups and a representative sample of quotations was collated. The booklet, entitled Good Doc, Bad Doc, was created with the aim of producing an aesthetically pleasing end product. The front section of the booklet was dedicated to quotations derived from responses to question 1 (What are the qualities of a ‘good’ doctor?), and the back section contained quotations derived from responses to the questions on the qualities of a ‘bad’ doctor. The centre of the booklet contained an area for self-reflection and the reader was encouraged to consider what he or she thought made a ‘good’ or ‘bad’ doctor at different stages of a career. The aim of the project was to present the booklet to the graduating medical students of 2016 so that they could use it as a tool for self-reflection throughout their careers. The booklet was initially presented to a focus group of final-year medical students. Their response was overwhelmingly positive. It provided an excellent source of discussion among the group, who were eager to see themes in the responses given and used it to reflect on their own practice. The group felt that in reality this tool would be best used at the earliest possible stage of medical school and could be used to track the learner’s maturing views on professional behaviour. They felt that then, once the booklet had proven to be a useful resource, they would be more likely to take it into their work following graduation. What lessons were learned? In light of the input given by the focus group, the booklet was used as originally intended and presented to graduating doctors in 2016. The original focus group will be followed up and the impact of the booklet fully assessed at this time. The development of the original project to introduce the booklet at the beginning of medical school, alongside a discussion on the use of reflective practice, can be planned. The practicability and effectiveness of using this as a tool for self-reflection at an earlier stage will be further evaluated and compared with the original project and its follow-up results. REFERENCE