Faculty Bibliography

Context:The disease course of adrenocortical carcinoma (ACC) patients is heterogeneous. A marker for prognosis and treatment response would facilitate choices for diagnosis and therapy. In other cancer types, circulating cell-free tumor DNA predicted tumor dynamics. Case Descriptions:The present pilot study included six patients. Next-generation sequencing (NGS) showed mutations in three ACC cases. From these patients, blood was drawn before (1 to 2 weeks) and after surgery and cell-free circulating DNA (cfDNA) was isolated. Tumor-specific mutations were found in the cfDNA of one of the three patients, with metastasized ACC at diagnosis. NGS of the tumor showed an NRAS mutation (c.182A>G:p.Q61R) in 78%, a TP53 mutation (c.856G>A:p.E286K) in 60%, and a TERT gene mutation (1295250C>T) in 28% of the reads. The preoperative cfDNA showed the same mutations at a frequency of 64%, 32%, and 2%, respectively. The postoperative cfDNA showed the same mutations but at lower frequencies (52%, 16%, and 3%, respectively). The patient was postoperatively treated with mitotane and chemotherapy. No mutations were detected in the corresponding leukocyte DNA or in the cfDNA from the two other patients. Conclusions:To the best of our knowledge, we report for the first time mutations occurring at high levels in cfDNA collected before and after surgery from one of three patients, after previous identification in the tumor. However, in the cfDNA from two patients with known mutations, we were unable to reliably detect mutations in the cfDNA. Our results indicate that mutation detection in cfDNA can vary among ACC patients, and other approaches might be required to detect the tumor response and monitor progressive disease.

This study examined whether depression and anxiety differentially relate to fatigue, sleep disturbance, pain catastrophizing, fear of movement, and pain severity in women with fibromyalgia. Baseline data from the Fibromyalgia Activity Study with Transcutaneous Electrical Nerve Stimulation were analyzed. Of 191 participants, 50 percent reported high anxiety and/or depression (17% high anxiety, 9% high depression, and 24% both). Fatigue and sleep impairment were associated with high depression ( p < 0.05). Pain severity, pain catastrophizing, and fear of movement were associated with high anxiety and high depression ( p < 0.05). Possible implications for underlying mechanisms and the need for targeted treatments are discussed.

Introduction: Effectiveness of colonoscopy is limited by inadequate bowel preparation. Failure of proper cleansing is multifactorial, but includes the inability of patients to tolerate the bowel preparation due to side effects. It is unknown whether or not the experience with split dose preparation increases adherence to recommendation for repeat colonoscopy. Few studies to date have evaluated potential barriers to bowel preparation in underserved populations. The purpose of this study was to identify whether adverse effects of bowel preparation affect the likelihood of repeating a colonoscopy in a split-dose versus a single dose cohort Methods: Demographic, socioeconomic, medical, education and tolerability data were collected prospectively using a multi-language questionnaire. Descriptive statistics and multivariate analyses were performed on all variables assessed by our questionnaire to evaluate for differences in patients who were likely or unlikely to repeat the preparation. Results: A total of 990 patients satisfied the study criteria (Figure 1). 54.6% of the patients were male, 39.7% Hispanic, 41.2% with less than a high school education, and 38.9% without medical insurance. 336 (34%) completed single dose and 654 (66%) completed split dose colon preparation. In the single dose cohort there were no statistically significant differences in the side effects experienced between patients who would and would not repeat the bowel preparation (Table 1). In contrast, in the split-dose cohorts, complaints of bad taste in mouth, nausea/vomiting and headache were statistically significant causes of a patient being unlikely to repeat the bowel preparation (p < .05) (Table 2). Despite the difference in the role of symptoms in willingness to repeat colon preparation between split dose versus single does preparation groups, there was no significant difference in overall willingness to repeat colon preparation between groups (69.0% versus 71.6%, p = 0.45). Conclusion: This study highlights differences in side effects experienced by patients taking a split dose compared to a single dose preparation. Despite these differences, patients in both groups were likely to repeat a colonoscopy. These results should give a provider confidence in prescribing a split dose preparation to a diverse patient population