Austin Children's Chest Associates

OBJECTIVE: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. METHODS: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnostic tool for genetic white matter disorders took place between December 1, 2015 and September 27, 2017. Patients were randomized to receive GS immediately with concurrent standard of care (SoC) testing, or to receive SoC testing for 4 months followed by GS. RESULTS: Thirty-four individuals were assessed at interim review. The genetic origin of 2 patient's leukoencephalopathy was resolved before randomization. Nine patients were stratified to the immediate intervention group and 23 patients to the delayed-GS arm. The efficacy of GS was significant relative to SoC in the immediate (5/9 [56%] vs 0/9 [0%]; Wild-Seber, p < 0.005) and delayed (control) arms (14/23 [61%] vs 5/23 [22%]; Wild-Seber, p < 0.005). The time to diagnosis was significantly shorter in the immediate-GS group (log-rank test, p = 0.04). The overall diagnostic efficacy of combined GS and SoC approaches was 26 of 34 (76.5%, 95% confidence interval = 58.8-89.3%) in <4 months, greater than historical norms of <50% over 5 years. Owing to loss of clinical equipoise, the trial design was altered to a single-arm observational study. INTERPRETATION: In this study, first-line GS provided earlier and greater diagnostic efficacy in white matter disorders. We provide an evidence-based diagnostic testing algorithm to enable appropriate clinical GS utilization in this population. ANN NEUROL 2020;88:264-273.

ISSUES AND PURPOSE: Pediatric nurses do not consistently use the anesthetic cream for children. This study examined availability, use, and perception of driving and restraining forces for use of EMLA cream for venipuncture and i.v. catheter insertion. DESIGN AND METHODS: In this descriptive study, surveys were sent to 400 randomly selected pediatric RNs. Surveys were returned by 211 nurses from 36 states. RESULTS: Driving forces for EMLA usage included ease of use and increased patient rapport. Restraining forces were focused on barriers to accessing EMLA. Positive perceptions of EMLA were affected by ease of accessibility. PRACTICE IMPLICATIONS: Use of EMLA may be enhanced by standard orders, inservice instruction, and stocking EMLA on the patient care unit.

BACKGROUND: The most serious complications of cystic fibrosis (CF) relate to respiratory insufficiency. Oxygen supplementation therapy has been a standard of care for individuals with chronic lung diseases associated with hypoxemia for decades. It is common for physicians to prescribe oxygen therapy for people with CF when hypoxemia occurs. However, it is unclear if empiric evidence is available to provide indications for this therapy with its financial costs and often profound impact on lifestyle. OBJECTIVES: To assess whether oxygen therapy improves the longevity or quality of life of individuals with CF. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Most recent search of Group's Trials Register: April 2005. SELECTION CRITERIA: Randomized or quasi-randomized controlled trials comparing oxygen, administered at any concentration, by any route, in people with documented CF for any time period. DATA COLLECTION AND ANALYSIS: Two authors independently assessed study quality and extracted data. MAIN RESULTS: Nine published studies (149 participants) are included in this review, of which only one examined long-term oxygen therapy (28 participants). There was no statistically significant improvement in survival, lung, or cardiac health. Four studies examined the effect of oxygen supplementation during sleep by polysomnography. Although oxygenation improved, there were no demonstrable improvements in qualitative sleep parameters and modest hypoventilation was noted. In three studies, oxygen supplementation was evaluated during exercise. Hypoxemia was prevented, but mild hypercapnia resulted. Work performance was not improved, as measured in one study, but was improved in a second study. Furthermore, in two studies, exercise duration was enhanced by oxygen supplementation. In the study examining the impact of oxygen supplementation after exercise, recovery time was enhanced. AUTHORS' CONCLUSIONS: There are no published data to guide the prescription of chronic oxygen supplementation to people with advanced lung disease due to CF. Short-term oxygen therapy during sleep and exercise improves oxygenation but is associated with modest and probably clinically inconsequential hypercapnia. During exercise, there are improvements in exercise duration and peak performance. There is a need for larger, well-designed clinical trials to assess the benefits of long-term oxygen therapy in people with CF administered continuously or during exercise or sleep or both.

Objective: Respiratory Syncytial Virus (RSV) is the most common cause of bronchiolitis and viral lower respiratory tract infections in children. It is associated with annual winter epidemics across the United States, typically October through April. Our objective is to describe the clinical characteristics of children hospitalized outside the typical RSV season and to compare them with those admitted during the season. Methods: A retrospective chart review was conducted of all patients who were hospitalized at Children's Hospital of Austin from May 2000 to September 2006 and had a positive RSV antigen test. Descriptive statistics, tests of differences, and associations between patients diagnosed in the off-season versus typical season were conducted. Results: A total of 850 charts of RSV-positive cases were reviewed. Of these, 45 patients (5.3%) were admitted during the off-season. The following variables were statistically significantly associated with diagnosis in the off-season versus typical season: mean birth weight (2704 g vs. 3204 g respectively, p =0.0001); gestational age at birth less than 36 weeks (OR=4.35; 95% CI: 2.2, 8.6); history of neonatal intensive care unit (NICU) admission at birth (OR=6.04; 95% CI: 2.9, 12.5); and multiple birth (OR=3.38; 95% CI: 1.2, 9.2). Conclusions: Infants with RSV infection outside of the typical season were more likely to have been premature, of lower birth weight, the products of multiple births, and admitted to the NICU at birth.