Moore J.W.,University of California at San Diego |
Greene J.,PFM Medical Inc. |
Palomares S.,PFM Medical Inc. |
Owada C.Y.,Childrens Hospital Central California |
And 4 more authors.
JACC: Cardiovascular Interventions | Year: 2014
Objectives: This study aimed to compare the efficacy and safety of the Nit-Occlud PDA device (PFM Medical, Cologne, Germany) to benchmarks designed as objective performance criteria (OPC). BACKGROUND The Nit-Occlud PDA is a nitinol coil-type patent ductus arteriosus (PDA) occluder with a reverse cone configuration, which is implanted using a controlled delivery system. METHODS Patients with <4-mm minimum diameter PDA were prospectively enrolled in the Pivotal and the Continuing Access Studies from 15 sites in the United States and were followed up for 12 months post-procedure. Investigatorreported outcomes were compared to OPC including a composite success criterion, efficacy criteria of successful closure (clinical and echocardiographic), and safety criteria incidence of adverse events (serious and of total). Results: The Pivotal Study enrolled patients between November 1, 2002 and October 31, 2005, and the Continuing Access Study enrolled additional patients between September 1, 2006 and October 31, 2007. A total of 357 patients were enrolled, and 347 had successful device implantations. After 12 months, 96.8% had complete echocardiographic closure (OPC = 85%) and 98.1% had clinical closure (OPC = 95%). There were no deaths or serious adverse events (OPC = 1%). The total adverse event rate was 4.7% (OPC = 6%). Composite success was 95.1% in the study patients (OPC = 80%). Conclusions: Closure of small- and medium-sized PDA with the Nit-Occlud PDA is effective and safe when compared with OPC. © 2014 by the American College of Cardiology Foundation.
Nagamani S.C.S.,Baylor College of Medicine |
Erez A.,Baylor College of Medicine |
Ben-Zeev B.,Safra Childrens Hospital |
Frydman M.,Genetics Institute |
And 7 more authors.
European Journal of Human Genetics | Year: 2013
Small genomic rearrangements and copy-number variations (CNVs) involving a single gene have been associated recently with many neurocognitive phenotypes, including intellectual disability (ID), behavioral abnormalities, and autistic spectrum disorders (ASDs). Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. We report four patients with small CNVs ranging in size between 133-319 kb that disrupt AUTS2. Two patients have duplications involving single exons, whereas two have deletions that removed multiple exons. All patients had developmental delay, whereas two patients had a diagnosis of ASDs. The CNVs were detected by an exon-targeted array CGH with dense oligonucleotide coverage in exons of genes known or hypothesized to be causative of multiple human phenotypes. Our report further shows that disruption of AUTS2 results in a variety of neurobehavioral phenotypes. More importantly, it demonstrates the utility of targeted exon array as a highly sensitive clinical diagnostic tool for the detection of small genomic rearrangements in the clinically relevant regions of the human genome. © 2013 Macmillan Publishers Limited All rights reserved.
Spergel A.R.,National Institute of Allergy and Infectious Diseases |
Walkovich K.,U.S. National Institutes of Health |
Price S.,National Institute of Allergy and Infectious Diseases |
Niemela J.E.,University of Michigan |
And 3 more authors.
Pediatrics | Year: 2013
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child. Unfortunately, these clinical findings are also noted in other childhood lymphoproliferative conditions, such as leukemia, lymphoma, and hemophagocytic lymphohistiocytosis, which can confound the diagnosis. This report describes a 6-year-old girl with symptoms misdiagnosed as hemophagocytic lymphohistiocytosis and treated with chemotherapy before the recognition that her symptoms and laboratory values were consistent with a somatic FAS mutation leading to ALPS. This case should alert pediatricians to include ALPS in the differential diagnosis of a child with lymphadenopathy, splenomegaly, and cytopenias; obtain discriminating screening laboratory biomarkers, such as serum vitamin B-12 and ferritin levels; and, in the setting of a highly suspicious clinical scenario for ALPS, pursue testing for somatic FAS mutations when germ-line mutation testing is negative. Pediatrics 2013;132:e1440-e1444. Copyright © 2013 by the American Academy of Pediatrics.
Hashkes P.J.,Pediatric Rheumatology Unit |
Spalding S.J.,Cleveland Clinic |
Giannini E.H.,Cincinnati Childrens Medical Center |
Huang B.,Cincinnati Childrens Medical Center |
And 10 more authors.
Annals of Internal Medicine | Year: 2012
Background: Currently, there is no proven alternative therapy for patients with familial Mediterranean fever (FMF) that is resistant to or intolerant of colchicine. Interleukin-1 is a key proinflammatory cytokine in FMF. Objective: To assess the efficacy and safety of rilonacept, an interleukin-1 decoy receptor, in treating patients with colchicineresistant or -intolerant FMF. Design: Randomized, double-blind, single-participant alternating treatment study. (ClinicalTrials.gov number: NCT00582907). Setting: 6 U.S. sites. Patients: Patients with FMF aged 4 years or older with 1 or more attacks per month. Intervention: One of 4 treatment sequences that each included two 3-month courses of rilonacept, 2.2 mg/kg (maximum, 160 mg) by weekly subcutaneous injection, and two 3-month courses of placebo. Measurements: Differences in the frequency of FMF attacks and adverse events between rilonacept and placebo. Results: 8 males and 6 females with a mean age of 24.4 years (SD, 11.8) were randomly assigned. Among 12 participants who completed 2 or more treatment courses, the rilonacept-placebo attack risk ratio was 0.59 (SD, 0.12) (equal-tail 95% credible interval, 0.39 to 0.85). The median number of attacks per month was 0.77 (0.18 and 1.20 attacks in the first and third quartiles, respectively) with rilonacept versus 2.00 (0.90 and 2.40, respectively) with placebo (median difference, -1.74 [95% CI, -3.4 to -0.1]; P = 0.027). There were more treatment courses of rilonacept without attacks (29% vs. 0%; P = 0.004) and with a decrease in attacks of greater than 50% compared with the baseline rate during screening (75% vs. 35%; P = 0.006) than with placebo. However, the duration of attacks did not differ between placebo and rilonacept (median difference, 1.2 days [-0.5 and 2.4 days in the first and third quartiles, respectively]; P = 0.32). Injection site reactions were more frequent with rilonacept (median difference, 0 events per patient treatment month [medians of -4 and 0 in the first and third quartiles, respectively]; P = 0.047), but no differences were seen in other adverse events. Limitation: Small sample size, heterogeneity of FMF mutations, age, and participant indication (colchicine resistance or intolerance) were study limitations. Conclusion: Rilonacept reduces the frequency of FMF attacks and seems to be a treatment option for patients with colchicine-resistant or -intolerant FMF. Primary Funding Source: U.S. Food and Drug Administration, Office of Orphan Products Development. © 2012 American College of Physicians.
McLarty J.D.,Loma Linda University |
Krishnan M.,Loma Linda University |
Rowe M.R.,Loma Linda University |
Rowe M.R.,Childrens Hospital Central California
Archives of Otolaryngology - Head and Neck Surgery | Year: 2012
Disk (or button) battery ingestion is not uncommon, with an estimated US incidence of 2 to 8 per million annually.1 Reported serious adverse sequelae include esophageal stenosis, tracheoesophageal fistula, vocal cord paralysis, massive bleeding, and death.1,2 There are, however, surprisingly few reports of aspirated batteries in the searchable literature; we found only 2. We present the diagnostic workup and treatment of a previously healthy 4-year-old boy with an aspirated disk battery in the bronchus.
Metayer C.,University of California at Berkeley |
Colt J.S.,U.S. National Institutes of Health |
Buffler P.A.,University of California at Berkeley |
Reed H.D.,U.S. National Institutes of Health |
And 3 more authors.
Journal of Exposure Science and Environmental Epidemiology | Year: 2013
We examine the association between exposure to herbicides and childhood acute lymphoblastic leukemia (ALL). Dust samples were collected from homes of 269 ALL cases and 333 healthy controls (<8 years of age at diagnosis/reference date and residing in same home since diagnosis/reference date) in California, using a high-volume surface sampler or household vacuum bags. Amounts of agricultural or professional herbicides (alachlor, metolachlor, bromoxynil, bromoxynil octanoate, pebulate, butylate, prometryn, simazine, ethalfluralin, and pendimethalin) and residential herbicides (cyanazine, trifluralin, 2-methyl-4-chlorophenoxyacetic acid (MCPA), mecoprop, 2,4-dichlorophenoxyacetic acid (2,4-D), chlorthal, and dicamba) were measured. Odds ratios (OR) and 95% confidence intervals (CI) were estimated by logistic regression. Models included the herbicide of interest, age, sex, race/ethnicity, household income, year and season of dust sampling, neighborhood type, and residence type. The risk of childhood ALL was associated with dust levels of chlorthal; compared to homes with no detections, ORs for the first, second, and third tertiles were 1.49 (95% CI: 0.82-2.72), 1.49 (95% CI: 0.83-2.67), and 1.57 (95% CI: 0.90-2.73), respectively (P-value for linear trend=0.05). The magnitude of this association appeared to be higher in the presence of alachlor. No other herbicides were identified as risk factors of childhood ALL. The data suggest that home dust levels of chlorthal, and possibly alachlor, are associated with increased risks of childhood ALL. © 2013 Nature America, Inc.
Oda J.E.,Childrens Hospital Central California |
Thacker M.M.,DuPont Company
Journal of Pediatric Orthopaedics Part B | Year: 2013
We report on a case of a tension band plate and screw construct (Eight Plate) used over the anterior distal tibia in an 9-year-old girl in an attempt to induce recurvatum of the ankle joint to correct a recalcitrant equinus deformity. With growth of the distal tibial physis, the epiphyseal screw was drawn through the physis into the distal tibial metaphysis, resulting in the creation of a transphyseal bony bar. Caution should be exercised when attempting temporary hemiepiphyseodesis using a plate and screw construct in small epiphyses or in an osteopenic bone. © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Costine B.A.,Harvard University |
Quebeda-Clerkin P.B.,Childrens Hospital Central California |
Dodge C.P.,Dartmouth Hitchcock Medical Center |
Harris B.T.,Georgetown University |
And 2 more authors.
Journal of Neurotrauma | Year: 2012
A peripheral indicator of the presence and magnitude of brain injury has been a sought-after tool by clinicians. We measured neuron-specific enolase (NSE), myelin basic protein (MBP), and S100B, prior to and after scaled cortical impact in immature pigs, to determine if these purported markers increase after injury, correlate with the resulting lesion volume, and if these relationships vary with maturation. Scaled cortical impact resulted in increased lesion volume with increasing age. Concentrations of NSE, but not S100B or MBP, increased after injury in all age groups. The high variability of S100B concentrations prior to injury may have precluded detection of an increase due to injury. Total serum markers were estimated, accounting for the allometric growth of blood volume, and resulted in a positive correlation of both NSE and S100B with lesion volume. Even with allometric scaling of blood volume and a uniform mechanism of injury, NSE had only a fair to poor predictive value. In a clinical setting, where the types of injuries are varied, more investigation is required to yield a panel of serum markers that can reliably predict the extent of injury. Allometric scaling may improve estimation of serum marker release in pediatric populations. © Mary Ann Liebert, Inc..
Elliott M.J.,Childrens Hospital Central California |
Slakey J.B.,Bone and Joint Sports Medicine Institute
Clinical Orthopaedics and Related Research | Year: 2014
Background: After performing instrumented spinal fusion with pedicle screws, postoperative imaging using CT to assess screw position may be necessary. Stainless steel implants produce significant metal artifact on CT, and the degree of distortion is at least partially dependent on the cross-sectional area of the implanted device. If the same effect occurs with titanium alloy implants, ability to precisely measure proximity of screws to adjacent structures may be adversely affected as screw size increases. Questions/purposes: We therefore asked whether (1) CT provides precise measurements of true screw widths; and (2) precision degrades based on the size of the titanium implant imaged. Methods: CT scans performed on 20 patients after instrumented spinal fusion for scoliosis were reviewed. The sizes of 151 titanium alloy pedicle screws were measured and compared with known screw size. The amount of metal bloom artifact was determined for each of the four screw sizes. ANOVA with Tukey's post hoc test were performed to evaluate differences in scatter, and Spearman's rho coefficient was used to measure relationship between screw size and scatter. Results: All screws measured larger than their known size, but evenwith larger 7-mm screws the size differential was less than 1 mm. The four different screw sizes produced scatter amounts that were different from each other (p < 0.001).The amount of metal bloom artifact produced does increase as the size of the screw increases (rho = 0.962, p < 0.001). Conclusions: CT of titanium alloy pedicle screws produces minimal artifact, thus making this the preferred imaging modality to assess screw position after surgery. Although the amount of artifact increases with the volume of titanium present, the degree of distortion is minimal and is usually less than 1 mm. © The Association of Bone and Joint Surgeons® 2014.
Childrens Hospital Central California | Date: 2014-05-16
Devices disclosed herein relate to humidification systems for making humidified ventilator air. The humidification system provides an elongated air path that increases both the surface area and time for air-water interaction, and thus increases efficiency of humidification. The humidification system also enables even distribution of heat and inhibition of bacterial growth within the system, thus improves comfort and safety for patients receiving respiratory therapy. Device disclosed herein also relates to tubing for delivering humidified ventilator air. The tubing includes an air passage and a heat blanket that envelops and warms up the air passage. The tubing thus prevents or decreases water condensation and loss of humidity of humidified air.