Toward patient-centered treatment goals for duchenne muscular dystrophy: insights from the "Your Voice" study.

BACKGROUND: Patient-centered research has emerged as critically important for understanding the impact of treatments on key stakeholders. The subjective experience of quality of life (QOL) is increasingly recognized as fundamental to delineating treatment goals. The present study utilized content analysis of qualitative data and quantitative analysis to highlight important domains of disease burden and underlying reasons for their importance, and to characterize goals for new treatments for Duchenne Muscular Dystrophy (DMD). RESULTS: The study sample reflected the perspectives of DMD patients and caregivers representing ambulatory, transitional, and non-ambulatory stages of disability progression (n = 20 per category). Open-ended interviews were content-analyzed and non-parametric statistical tests were used to compare ambulation groups. As patients progressed in disability, the noted DMD burdens reflected some differences in functional areas. While daily functioning and sports/recreation remained the most important priority areas across ambulation groups, "health" became less prominent as the disability progressed from ambulatory to transitional to non-ambulatory phases of disability; whereas relationships became more prominent as one progressed to the non-ambulatory phase from the ambulatory or transitional phases (Kruskall Wallis H = 12.24 and 5.28, p = 0.002 and 0.02, respectively). When asked why their burdens were important to them and how it impacted their or their child's life, self-esteem/confidence was most important for ambulatory patients, and became less prominent for patients in the transitional and non-ambulatory phases of disability (Kruskall Wallis H = 9.46, p = 0.009). In contrast, independence was less important for ambulatory patients, and became increasing prominent for patients in the transitional and non-ambulatory phases of disability (Kruskall Wallis H = 7.35, p = 0.025). Emotional functioning was most prominent for all ambulation groups on their best and worst days. Goals for new DMD treatments focused on functional goals, general QOL goals, and concerns about safety, ease of use, and effectiveness. CONCLUSION: This study provides useful information about treatment goals for DMD from the perspective of patients and their caregivers. It highlights some consistent values across the disability trajectory, as well as introducing an evolution of priorities as the person with DMD becomes more disabled. Results provide a roadmap for patient-centered DMD drug development.

Post-operative non-steroidal anti-inflammatory drug use for pain in infant and paediatric cardiac surgery patients.

BACKGROUND: Pain control is an important element of care for patients after surgery, leading to better outcomes, quicker transitions to recovery, and improvement in quality of life. The purpose of this study was to evaluate the safety and efficacy of non-steroidal anti-inflammatory drugs in children after cardiac surgery. MATERIALS AND METHODS: Patients between the ages of 1 month and 18 years of age, who received intravenous or oral non-steroidal anti-inflammataory drugs after cardiac surgery, from November 2015 until September 2017 were included in this study. The primary endpoints were non-steroidal anti-inflammataory drug-associated renal dysfunction and post-operative bleeding. Secondary endpoints examined the effect of non-steroidal anti-inflammataory drug use on total daily dose of narcotics, number of intravenous PRN narcotic doses received, and pain assessment score. Data were analysed using descriptive statistics for frequencies and ranges. Multivariate analysis was performed to measure the association of all predictors and outcomes. Wilcoxon singed-rank test was performed for secondary outcomes. RESULTS: There was no association between the incidence of renal dysfunction and the use of or duration of non-steroidal anti-inflammataory drugs; in addition no association was found with increased chest tube output. There was a statistically significant reduction of patients' median Face, Legs, Activity, Cry, Consolability (FLACC) scores (2-0; p = 0.003), seen within first 24 hours after initiation of ketorolac, and a significant reduction of morphine requirements seen from day 1 to day 2 (0.3 mg/kg versus 0.1 mg/kg; p < 0.001) and number of as-needed doses. CONCLUSION: Non-steroidal anti-inflammataory drugs in paediatric cardiac surgery patients are safe and effective for post-operative pain management.

N-Acetylcysteine for Gastric Lactobezoars in a 1-Month-Old.

Gastric lactobezoars are a result of the inability to digest milk and mucous. Formulas that contain high casein concentrations, medium triglyceride oils, or high caloric density can increase the risk of bezoar formation by decreasing gastric secretion or delaying gastric emptying. N-acetylcysteine (NAC) is used to clear thick mucus secretions and is hypothesized to be effective in the treatment of gastric lactobezoars due to the cleavage of disulfide bonds in mucoproteins. We describe the use of NAC in a 1-month-old full term male (4.5 kg) who was diagnosed with a gastric lactobezoar following an upper gastrointestinal series that showed a large persistent filling defect in the distal body, which was suggestive of a gastric lactobezoar. A dose of 45 mg (10 mg/kg) of 10% NAC was diluted in 50 mL of normal saline and given every 6 hours via a nasogastric (NG) tube. Administration was followed by clamping of the NG tube for 2 hours and aspiration of the stomach contents. NAC was discontinued when aspirates were a clear mucus consistency. The patient's gastric lactobezoar was successfully treated with a 10 mg/kg/dose of NAC that was given every 6 hours for a total of 4 doses.

Comparison of fixed versus traditional weight-based dosing of rasburicase in a pediatric population.

BACKGROUND: The American Society of Clinical Oncology guidelines recommend rasburicase for the treatment of pediatric patients with hyperuricemia at risk of tumor lysis syndrome (TLS) using a weight-based dose of 0.1-0.2 mg/kg once daily for 1-7 days. However, there has been a trend in practice due to recent data showing benefit using a fixed-dose approach. The purpose of this study was to evaluate the efficacy and safety between fixed and weight-based dosing of rasburicase in a pediatric population. PROCEDURE: This was a retrospective chart review of 48 patients from January 1, 2007 to August 31, 2016 at Children's National Health System. Patients less than 18 years old with a documented diagnosis of a malignancy and baseline uric acid level were included; patients less than 30 kg at the time of rasburicase administration were excluded. RESULTS: The primary endpoint of this study was the treatment success of normalization of uric acid level (<5 mg/dl) within 24 hr of rasburicase administration. Eighty-three percent of patients had success with normalization of uric acid post rasburicase dose. Eighty-five percent of patients had success in the weight-based group compared to eighty-one percent in the fixed-dose group (P = 0.715). Mean percent reduction of uric acid at 24 hr was relatively similar between both groups (94% vs. 89%). CONCLUSION: Our results suggest that a fixed-dose strategy of rasburicase is both safe and effective in reducing uric acid levels in the pediatric patient population. A fixed dose of rasburicase 6 mg is a cost-effective treatment option for TLS.