Citations

The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi‐institutional collaborative effort. The majority of patients presented with developmental delays varying from mild to severe. Though dysmorphic features were commonly reported, patients do not have consistent and recognizable features. Cardiac, ophthalmologic, growth, behavioral, and other abnormalities were each present in a subset of patients. The newly associated features potentially resulting from 17q12 duplication include height and weight above the 95th percentile, cataracts, microphthalmia, coloboma, astigmatism, tracheomalacia, cutaneous mosaicism, pectus excavatum, scoliosis, hypermobility, hypospadias, diverticulum of Kommerell, pyloric stenosis, and pseudohypoparathryoidism. The majority of duplications were inherited with some carrier parents reporting learning disabilities or microcephaly. We identified additional, potentially contributory copy number changes in a subset of patients, including one patient each with 16p11.2 deletion and 15q13.3 deletion. Our data further define and expand the clinical spectrum associated with duplications of 17q12 and provide support for the role of genomic modifiers contributing to phenotypic variability. © 2015 Wiley Periodicals, Inc.

ObjectiveThe aim of the study was to assess the utilization of catheter‐directed thrombolysis (CDT) and its comparative effectiveness against systemic thrombolysis in acute pulmonary embolism (PE).BackgroundContemporary real world data regarding utilization and outcomes comparing systemic thrombolysis with CDT for PE is sparse.MethodsWe queried the Nationwide Inpatient Sample from 2010 to 2012 using the ICD‐9‐CM diagnosis code 415.11, 415.13, and 415.19 for acute PE. We used propensity score analysis to compare outcomes between systemic thrombolysis and CDT. Primary outcome was in‐hospital mortality. Secondary outcome was combined in‐hospital mortality and intracranial hemorrhage (ICH).ResultsOut of 110,731 patients hospitalized with PE, we identified 1,521 patients treated with thrombolysis, of which 1,169 patients received systemic thrombolysis and 352 patients received CDT. After propensity‐matched comparison, primary and secondary outcomes were significantly lower in the CDT group compared to systemic thrombolysis (21.81% vs. 13.36%, OR 0.55, 95% CI 0.36–0.85, P value = 0.007) and (22.89% vs. 13.36%, OR 0.52, 95% CI 0.34–0.80, P value = 0.003), respectively. The median length of stay [7 days, interquartile range (IQR) (5–9 days) vs. 7 days, IQR (5–10 days), P = 0.17] was not significant between the two groups. The CDT group had higher cost of hospitalization [$17,218, IQR ($12,272–$23,906) vs. $23,799, IQR ($17,892–$35,338), P < 0.001]. Multivariate analysis identified increasing age, saddle PE, cardiopulmonary arrest, and Medicaid insurance as independent predictors of in‐hospital mortality.ConclusionsCDT was associated with lower in‐hospital mortality and combined in‐hospital mortality and ICH. © 2015 Wiley Periodicals, Inc.

Background: Multivessel coronary artery disease carries significant mortality risk. Comprehensive data on inhospital outcomes following multivessel percutaneous coronary intervention (MVPCI) are sparse. Methods: We queried the Healthcare Cost and Utilization Project’s nationwide inpatient sample (NIS) between 2006 and 2011 using different International Classification of Diseases, 9th Revision, Clinical Modification procedure codes. The primary outcome was inhospital all-cause mortality, and the secondary outcome was a composite of inhospital mortality and periprocedural complications. Results: The overall mortality was low at 0.73% following MVPCI. Multivariate analysis revealed that (odds ratio, 95% confidence interval, P value) age (1.63, 1.48-1.79; <.001), female sex (1.19, 1.00-1.42; P = .05), acute myocardial infarction (AMI; 2.97, 2.35-3.74; <.001), shock (17.24, 13.61-21.85; <.001), a higher burden of comorbidities (2.09, 1.32-3.29; .002), and emergent/urgent procedure status (1.67, 1.30-2.16; <.001) are important predictors of primary and secondary outcomes. MVPCI was associated with higher mortality, length of stay (LOS), and cost of care as compared to single vessel single stent PCI. Conclusion: MVPCI is associated with higher inhospital mortality, LOS, and hospitalization costs compared to single vessel, single stent PCI. Higher volume hospitals had lower overall postprocedural mortality rate along with shorter LOS and lower hospitalization costs following MVPCI.

ObjectivesWe studied the trends and predictors of drug eluting stent (DES) utilization from 2006 to 2011 to further expound the inter‐hospital variability in their utilization.BackgroundWe queried the Healthcare Cost and Utilization Project's Nationwide Inpatient Sample (NIS) between 2006 and 2011 using ICD‐9‐CM procedure code, 36.06 (bare metal stent) or 36.07 (drug eluting stents) for Percutaneous Coronary Intervention (PCI). Annual hospital volume was calculated using unique identification numbers and divided into quartiles for analysis.Methods and ResultsWe built a hierarchical two level model adjusted for multiple confounding factors, with hospital ID incorporated as random effects in the model. About 665,804 procedures (weighted n = 3,277,884) were analyzed. Safety concerns arising in 2006 reduced utilization DES from 90% of all PCIs performed in 2006 to a nadir of 69% in 2008 followed by increase (76% of all stents in 2009) and plateau (75% in 2011). Significant between‐hospital variation was noted in DES utilization irrespective of patient or hospital characteristics. Independent patient level predictors of DES were (OR, 95% CI, P‐value) age (0.99, 0.98–0.99, <0.001), female(1.12, 1.09–1.15, <0.001), acute myocardial infarction(0.75, 0.71–0.79, <0.001), shock (0.53, 0.49–0.58, <0.001), Charlson Co‐morbidity index (0.81,0.77–0.86, <0.001), private insurance/HMO (1.27, 1.20–1.34, <0.001), and elective admission (1.16, 1.05–1.29, <0.001). Highest quartile hospital (1.64, 1.25–2.16, <0.001) volume was associated with higher DES placement.ConclusionThere is significant between‐hospital variation in DES utilization and a higher annual hospital volume is associated with higher utilization rate of DES. © 2015 Wiley Periodicals, Inc.

Child-health research initiative enables rapid response to opportunities for participation in multicenter pediatric clinical trials.