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Browsing by Author "Ballard, Darren D."
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Item Bannayan Ruvalcaba Riley Syndrome(American College of Gastroenterology, 2014-01) Sagi, Sashidhar V.; Ballard, Darren D.; Marks, Rebecca A.; Dunn, Katie R.; Kahi, Charles J.; Department of Medicine, IU School of MedicineA 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this and suggestive clinical findings, he was diagnosed with Bannayan Ruvalcaba Riley syndrome.Item Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing(Wolters Kluwer, 2015-01) Ballard, Darren D.; Flueckiger, Joyce R.; Fogel, Evan L.; McHenry, Lee; Lehman, Glen A.; Watkins, James L.; Sherman, Stuart; Coté, Gregory A.; Department of Medicine, IU School of MedicineOBJECTIVES: In adults with unexplained pancreatitis, the yield of complete gene versus select exosome sequencing on mutation detection and distinguishing clinical characteristics associated with mutations requires clarification. We sought to (1) compare frequency of mutations identified using different techniques and (2) compare clinical characteristics between adults with and without mutations. METHODS: This is a cohort study of adults with unexplained pancreatitis who underwent genetic testing between January 2008 and December 2012. We compare probabilities of having a positive mutation with complete gene sequencing versus alternatives and describe differences in characteristics among patients with and without mutations. RESULTS: Of the 370 patients, 67 (18%) had a genetic mutation; 24 (6%) were of high risk. Mutations were significantly more prevalent with use of complete sequencing (42%) versus other approaches (8%, P < 0.0001). Most (44/67, 66%) with a mutation had no family history. Those with high-risk mutations were more likely to have a family history of chronic pancreatitis (21% vs 4%, P = 0.002). Patients with pancreas divisum were more likely to have mutations (27% vs 14%, P = 0.0007). CONCLUSION: Among individuals with adult-onset pancreatic disease, the probability of finding any mutation, including high risk, is significantly higher using complete gene sequencing. The impact on patients and providers requires further investigation.Item Outcomes of submucosal (T1b) esophageal adenocarcinomas removed by endoscopic mucosal resection(Baishideng Publishing Group, 2016-12-16) Ballard, Darren D.; Choksi, Neel; Lin, Jingmei; Choi, Eun-Young; Elmunzer, B. Joseph; Appelman, Henry; Rex, Douglas K.; Fatima, Hala; Kessler, William; DeWitt, John M.; Department of Pathology and Laboratory Medicine, IU School of MedicineAIM: To investigate the outcomes and recurrences of pT1b esophageal adenocarcinoma (EAC) following endoscopic mucosal resection (EMR) and associated treatments. METHODS: Patients undergoing EMR with pathologically confirmed T1b EAC at two academic referral centers were retrospectively identified. Patients were divided into 4 groups based on treatment following EMR: Endoscopic therapy alone (group A), endoscopic therapy with either chemotherapy, radiation or both (group B), surgical resection (group C) or no further treatment/lost to follow-up (< 12 mo) (group D). Pathology specimens were reviewed by a central pathologist. Follow-up data was obtained from the academic centers, primary care physicians and/or referring physicians. Univariate analysis was performed to identify factors predicting recurrence of EAC. RESULTS: Fifty-three patients with T1b EAC underwent EMR, of which 32 (60%) had adequate follow-up ≥ 12 mo (median 34 mo, range 12-103). There were 16 patients in group A, 9 in group B, 7 in group C and 21 in group D. Median follow-up in groups A to C was 34 mo (range 12-103). Recurrent EAC developed overall in 9 patients (28%) including 6 (38%) in group A (median: 21 mo, range: 6-73), 1 (11%) in group B (median: 30 mo, range: 30-30) and 2 (29%) in group C (median 21 mo, range: 7-35. Six of 9 recurrences were local; of the 6 recurrences, 5 were treated with endoscopy alone. No predictors of recurrence of EAC were identified. CONCLUSION: Endoscopic therapy of T1b EAC may be a reasonable strategy for a subset of patients including those either refusing or medically unfit for esophagectomy.