Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children’s Health

PurposeEstimating the overall prevalence of genetic conditions among children in the United States and the burden of these conditions on children and their families has been challenging. The redesigned National Survey of Children’s Health provides an opportunity to examine the prevalence and burden.MethodsWe used the combined 2016-2017 National Survey of Children’s Health to estimate the prevalence of genetic conditions among children aged 0 to 17 years (N = 71,522). Bivariate analyses were used to assess differences in sociodemographic characteristics, health-related characteristics, and health care utilization between children with and without genetic conditions.ResultsIn 2016-2017, the prevalence of children aged 0 to 17 years with a reported genetic condition was approximately 0.039, roughly equating to 2.8 million children. A greater percentage of children with genetic conditions had a physical (50.9% vs 24.8%), mental (27.9% vs 5.8%), or behavioral/developmental/intellectual condition (55.6% vs 14.4%) than children without a genetic condition. Furthermore, they used more care and had more unmet health needs (7.6% vs 2.9%).ConclusionThis study provides an estimate of the overall prevalence of children living with genetic conditions in the United States based on a nationally representative sample. It also highlights the physical, mental, and behavioral health needs among children with genetic conditions and their unmet health care needs.     

Collision Risk Mitigation of Varian TrueBeam Linear Accelerator With Supplemental Live-View Cameras

Background

Noncoplanar radiation therapy techniques such as 4π have potential dosimetric advantages but introduce complexities in treatment delivery that increase the risk for collision. Direct or remote visual confirmation of clearance is a safeguard against collisions of the gantry, couch, and patient. With our institution’s Varian TrueBeam system, we identified configurations that cannot be visualized with the included closed-circuit television cameras. At our practice, electronic, portal imaging device (EPID) collision risk also exists because of the routine deployment to capture exit-dose images for treatment quality assurance. We propose a simple, cost-effective solution using network cameras to help eliminate blind spots that permits safe, noncoplanar arrangements with an EPID-acquired exit dose.

An economic analysis of amiodarone versus placebo for the prevention of atrial fibrillation after open heart surgery.

STUDY OBJECTIVE: To determine if the additional costs of oral amiodarone in patients undergoing open heart surgery would be offset by reductions in the frequency of atrial fibrillation. DESIGN: Piggyback cost analysis of the data from a randomized, double-blind, placebo-controlled trial. SETTING: Urban academic hospital. PATIENTS: Two hundred twenty elderly patients (> or = 60 yrs old) undergoing open heart surgery. INTERVENTION: Hospital costs of open heart surgery in patients given amiodarone for the prevention of atrial fibrillation and in prespecified subgroups were compared with those for patients given placebo (i.e., standard care with beta-blockers alone). MEASUREMENTS AND MAIN RESULTS: Total hospital costs incurred were $15,565 +/- $9832 and $16,126 +/- $8043 in the amiodarone and placebo groups, respectively (p=0.12). General ward, intensive care unit, operating room, pharmacy, and costs in all other departments were similar between the groups (p>0.05 for all comparisons). Because costs were similar but amiodarone was more effective than placebo, amiodarone was cost-effective compared with placebo. Amiodarone remained cost-effective compared with placebo regardless of the following subgroup characteristics: rapid or slow loading strategy, no history of atrial fibrillation or heart failure, age older than 70 years, and no tolerance to preoperative beta-blockers. Moreover, in the one-way sensitivity analysis, the findings remained robust to changes in effectiveness and cost of amiodarone. CONCLUSION: Routine prophylaxis with amiodarone is cost-effective compared with placebo. Future studies should examine the cost-effectiveness of selective prophylaxis, and primary cost-effectiveness studies should be conducted to validate these findings.     

Athletic Trainers' Perceptions of Accessibility to Necessary Resources for Those Working Per Diem Services

ContextAs the demand for athletic training services has grown, the per diem athletic training setting has expanded to fulfill this need. Per diem services are provided by athletic trainers (ATs) who are hired as independent contractors for short time periods. These service opportunities help to increase access to care for medically underserved populations; however, due to the transient nature of the work, the quality of care may be compromised.ObjectiveTo examine current practices in per diem services and evaluate ATs'' accessibility to resources.DesignCross-sectional study.SettingOnline survey.Patients or Other ParticipantsA total of 448 participants responded (access rate = 9.57%), of whom 210 were ineligible (46.9%). Of those who were eligible, 192 participants completed the entire tool (completion rate = 80.7%, age = 38 ± 12 years, years certified = 14 ± 11, years providing per diem services = 8 ± 8).Main Outcome Measure(s)The survey comprised 3 sections: (1) demographics, (2) accessibility to resources and influence on patient care, and (3) domains of athletic training while providing per diem services. Resources assessed included those that are relevant to ATs practicing in accordance with the Board of Certification “Standards of Professional Practice.” The final instrument included approximately 30 questions (depending on display logic) and took an average of 12 minutes to complete.ResultsOf the 11 primary resources assessed, participants had limited accessibility to 6. Critical resources related to informatics, legalities, and health care delivery were often not available, were seen as unimportant to providing medical services, or both.ConclusionsParticipants indicated varied perceptions about the need for and access to these resources. Yet such resources contribute to the creation of a safe infrastructure for providing medical services and should be part of the routine dialogue regarding independent contracting.     

Thymosin β4 protects against aortic aneurysm via endocytic regulation of growth factor signaling

Vascular stability and tone are maintained by contractile smooth muscle cells (VSMCs). However, injury-induced growth factors stimulate a contractile-synthetic phenotypic modulation which increases susceptibility to abdominal aortic aneurysm (AAA). As a regulator of embryonic VSMC differentiation, we hypothesized that Thymosin β4 (Tβ4) may function to maintain healthy vasculature throughout postnatal life. This was supported by the identification of an interaction with low density lipoprotein receptor related protein 1 (LRP1), an endocytic regulator of platelet-derived growth factor BB (PDGF-BB) signaling and VSMC proliferation. LRP1 variants have been implicated by genome-wide association studies with risk of AAA and other arterial diseases. Tβ4-null mice displayed aortic VSMC and elastin defects that phenocopy those of LRP1 mutants, and their compromised vascular integrity predisposed them to Angiotensin II–induced aneurysm formation. Aneurysmal vessels were characterized by enhanced VSMC phenotypic modulation and augmented PDGFR-β signaling. In vitro, enhanced sensitivity to PDGF-BB upon loss of Tβ4 was associated with dysregulated endocytosis, with increased recycling and reduced lysosomal targeting of LRP1–PDGFR-β. Accordingly, the exacerbated aneurysmal phenotype in Tβ4-null mice was rescued upon treatment with the PDGFR-β antagonist Imatinib. Our study identifies Tβ4 as a key regulator of LRP1 for maintaining vascular health, and provides insights into the mechanisms of growth factor–controlled VSMC phenotypic modulation underlying aortic disease progression.     

Automated Monitoring to Detect H1N1 Symptoms Among Urban, Medicaid-Eligible, Pregnant Women: A Community-Partnered Randomized Controlled Trial

In response to the H1N1 epidemic, we used community health workers to design and implement a randomized controlled trial to test the efficacy of a new automated call-monitoring system for second and third trimester predominantly Medicaid-eligible pregnant women in an urban free standing birth center to promptly detect symptoms of influenza and assure rapid treatment to prevent adverse outcomes from influenza. Daily automated telephone call to second and third trimester pregnant women asking if the woman experienced flu-like symptoms. Calls continued daily until 38 weeks gestation. A community health worker’s voice was used for the automated call recording. Positive responses triggered an immediate referral to a nurse-midwife for prompt treatment with anti-viral medication. Fifty pregnant participants were randomized into daily-automated call group (n = 26) or health information group (n = 24). The automated call group participants ranged in age from 14 to 36 (mean = 23.5, SD = 6.3), 84.7 % identified their race/ethnicity as African-American Non-Hispanic, and 80.7 % were Medicaid-Eligible. In the automated call group, 11.5 % chose to be immunized against H1N1. The mean percent of patients reached daily was 45.1 % (SD = 3.2 %) and at least once every 3 days was 65.1 % (SD = 3.1 %). One pregnant woman in the automated call group contracted H1N1 influenza and received prompt anti-viral treatment without any serious outcomes. Participation in daily-automated telephone calls did not differ significantly between patients younger than 18 years old versus patients 18 years or older. There was also no difference in participation between patients with parity of 0 versus patients with parity ≥1. Participation in daily telephone calls significantly (alpha ≤0.05) increased when a community health worker provided personal follow-up of non-responsive participants. 93.3 % of surveyed pregnant women, who received automated daily calls, recommended to use a similar daily call system in response to a future health crisis. Automated daily phone calls, designed and produced by community health workers, is a feasible, well received strategy to provide urgent health information to an urban, Medicaid-eligible group of pregnant women, regardless of age or parity.