Peck D.S.,University of Missouri |
Atherton A.M.,Childrens Mercy Hospitals |
Manwaring L.P.,Washington University in St. Louis |
Christensen K.M.,Cardinal Glennon Childrens Medical Center |
And 2 more authors.
Genetics in Medicine | Year: 2015
Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to delineate the age of detection for specific Fabry symptoms in early childhood.Methods:A systematic retrospective analysis of PubMed indexed, peer-reviewed publications and case reports in the pediatric Fabry population was performed to review symptoms in patients reported before 5 years of age.Results:The most frequently reported symptom in all age groups under 5 years was acroparesthesias/neuropathic pain, reported in 9 children, ranging in age from 2.0-4.0 years. Also notable is the frequency of gastrointestinal issues reported in 6 children aged 1.0-4.1 years of age.Conclusion:This article finds clear evidence that symptoms can occur in early childhood, before age 5 years. Given early presenting symptoms and the ability to monitor these disease hallmarks, a timely referral to a medical geneticist or other specialty clinician experienced in managing children with Fabry disease is strongly indicated. © American College of Medical Genetics and Genomics.
Mason S.,Cardinal Glennon Childrens Medical Center |
Brusatti J.,Cardinal Glennon Childrens Medical Center
Pediatrics | Year: 2015
BACKGROUND: The Cystic Fibrosis (CF) Foundation recommends patients attend abstract clinic ≥4 times per year with 4 respiratory cultures and 2 pulmonary function tests (PFTs). However, nationally only 57.4% of patients met these guidelines in 2012. We used a quality improvement program with a goal of 75% of our patients meeting this care guideline by 2012. METHODS: A 2-stage program was started in 2011. Stage 1: education of patients/caregivers on importance of quarterly visits. Stage 2: quarterly tracking system of patient appointments. Data on clinic visits, respiratory cultures, and PFTs were collected from the CF registry from January 2009 through December 2013. Statistical process control charts were used to track improvements. RESULTS: The average number of clinic visits increased significantly from 4.6 ± 2.3 in 2009 to 6.3 ± 4.6 in 2013 (P <.0001). The percentage of patients ages 6 through 18 completing a clinic visit, PFT, and respiratory culture per quarter increased significantly from 76.2% during 2009 to 86.4% in 2013. The percentage of patients completing ≥4 clinic visits with 4 respiratory cultures and 2 PFTs improved significantly from 47.5% in 2009 to 71.0% in 2013 (P <.0001). CONCLUSIONS: A tracking system of patient appointments significantly improved adherence to the care guidelines better than education alone. The multiplestage quality improvement program we implemented may be modifiable and able to be integrated in other CF centers or other multiple disciplinary chronic illness care centers. © 2015 by the American Academy of Pediatrics.
Carrel A.L.,University of Wisconsin - Madison |
Myers S.E.,Cardinal Glennon Childrens Medical Center |
Whitman B.Y.,Cardinal Glennon Childrens Medical Center |
Eickhoff J.,Colorado State University |
Allen D.B.,University of Wisconsin - Madison
Journal of Clinical Endocrinology and Metabolism | Year: 2010
Background: Children with Prader-Willi syndrome (PWS) have decreased muscle mass, hypotonia, and impaired linear growth. Recombinant human GH (hGH) treatment reportedly improves body composition and physical function in children with PWS, but these studies lack long-term control data. To assess the impact of hGH therapy begun early in life on the natural history of PWS, we compared height, body composition, and strength in similar-age children with PWS naïve to hGH with those treated with hGH for 6 yr. Objectives: Forty-eight children with PWS were studied: 21 subjects (aged 6-9 yr) treated withhGH for 6 yr (beginning at 4-32 months,mean13±6 months) were compared with 27 children of similar age (5-9 yr) prior to treatment with hGH. Percent body fat, lean body mass, carbohydrate/lipid metabolism, and motor strength were compared using analysis of covariance. Results: PWS children treated with hGH demonstrated lower body fat (mean, 36.1 ± 2.1 vs. 44.6 ± 1.8%, P<0.01), greater height (131±2 vs. 114±2 cm; P<0.001), greatermotorstrength [increased standing broad jump 22.9 ± 2.1 vs. 14.6 ± 1.9 in. (P < 0.001) and sit-ups 12.4 ± 0.9 vs. 7.1 ± 0.7 in 30 sec (P < 0.001)], increased high-density lipoprotein cholesterol (58.9 ± 2.6 vs. 44.9 ± 2.3 mg/dl, P < 0.001), decreased low-density lipoprotein (100 ± 8 vs. 131 ± 7 mg/dl, P < 0.01), and no difference in fasting glucose or insulin. Conclusions: hGH treatment in children with PWS, begun prior to 2 yr of age, improves body composition, motor function, height, and lipid profiles. The magnitude of these effects suggests that long-term hGH therapy favorably alters the natural history of PWS to an extent that exceeds risks and justifies consideration for initiation during infancy. Copyright © 2010 by The Endocrine Society.
Regan D.M.,Cardinal Glennon Childrens Medical Center |
Wofford J.D.,University of Manitoba |
Wall D.A.,University of Manitoba
Transfusion | Year: 2010
BACKGROUND: Umbilical cord blood (UCB) products have traditionally been thawed using a washing method intended to stabilize the cells, reduce dimethyl sulfoxide (DMSO) toxicity, and remove potentially ABO-incompatible red blood cell (RBC) stroma and plasma. Concerns with this approach include loss of total nucleated cells (TNCs), bag breakage during centrifugation, and poor reproducibility by transplant centers unfamiliar with this technique. We rationalized that a simple 1:1 dilution without centrifugation would stabilize the product and reduce the DMSO concentration by 50%, allowing for a controlled thaw in the laboratory without the risks of cell loss. STUDY DESIGN AND METHODS: We compared the traditional wash method with albumin reconstitution (dilution) and thaw only (no dilution or wash), assessing measurements of viability, TNC, CD34, and colony-forming cell (CFC) recovery post-thaw. Ten cryopreserved UCB products were thawed, split equally into three parts, and treated using each method. Product stability was measured at multiple time intervals up to 48 hours post-thaw. RESULTS: Throughout the entire evaluation, traditional wash and dilution methods performed equally well with no significant differences observed in 7-aminoactinomycin viability, TNC, CD34, or CFC recovery. For 163 patients in which diluted products were administered, there were no serious adverse effects at infusion and similar time to engraftment was observed when compared to historical experiences with traditional wash and direct infusion. CONCLUSION: We conclude that removing DMSO, RBC stroma, and plasma post-thaw using a wash method is not necessary when UCB products are RBC and plasma reduced before cryopreservation. © 2010 American Association of Blood Banks.
Akel S.,Cardinal Glennon Childrens Medical Center |
Lorenz J.,Cardinal Glennon Childrens Medical Center |
Regan D.,Cardinal Glennon Childrens Medical Center
Transfusion | Year: 2013
Background The St Louis Cord Blood Bank submitted a biologics license application for cord blood (CB) products processed by PrepaCyte-CB (BioE), supported with a validation study of a microbial detection system for product sterility testing (BACTEC-FX, Becton Dickinson). This article provides the validation approach followed to fulfill Food and Drug Administration requirements pertinent to sterility testing method. Study Design and Methods System qualification, culture media quality verification, and validation of CB processing by-product (CB-BP) sample as surrogate to final product for sterility testing were followed by studies evaluating method sensitivity, specificity, reproducibility, ruggedness or robustness, and bacteriostatic or fungistatic effect of CB-BP sample. CB-BP cultures and control samples were formulated using BACTEC Plus Aerobic/F, Plus Anaerobic/F, and Myco F/Lytic media. Samples were seeded with selected test organisms (n = 13 at 10-100 colony-forming units [CFUs] per vial) and cultured for 14 days (bacterial) and 30 days (fungal). Results Under testing conditions, no stasis effect of test sample on microbial growth and no false-positive or false-negative results were reported. Although a 7-day culture was sufficient to detect all validation test organisms seeded at ≤26 CFUs/vial, growth in actual product sterility testing practice may require a 10- to 14-day culture. Assay reproducibility was uncertain at very low bioburden (<10 CFUs/vial). Growth time to detection neither varied between different media lots nor prolonged in culture vials with loading delay (6-8 hr at room temperature). Conclusion BACTEC-FX culture and detection system and BACTEC media formulae have high detection capability and can be effectively validated for sterility testing of CB products. © 2013 American Association of Blood Banks.
Hogan C.,Cardinal Glennon Childrens Medical Center
Public Health Nursing | Year: 2014
Objective: Though the Back to Sleep Campaign that began in 1994 caused an overall decrease in sudden infant death syndrome (SIDS) rates, racial disparity has continued to increase in St. Louis. Though researchers have analyzed and described various sociodemographic characteristics of SIDS and infant deaths by unintentional suffocation in St. Louis, they have not simultaneously controlled for contributory risk factors to racial disparity such as race, poverty, maternal education, and number of children born to each mother (parity). To determine whether there is a relationship between maternal socioeconomic factors and sleep-related infant death. Design and Sample: This quantitative case-control study used secondary data collected by the Missouri Department of Health and Senior Services between 2005 and 2009. The sample includes matched birth/death certificates and living birth certificates of infants who were born/died within time frame. Measures: Descriptive analysis, Chi-square, and logistic regression. Results: The controls were birth records of infants who lived more than 1 year. Chi-square and logistic regression analyses confirmed that race and poverty have significant relationships with infant sleep-related deaths. Conclusions: The social significance of this study is that the results may lead to population-specific modifications of prevention messages that will reduce infant sleep-related deaths. © 2013 Wiley Periodicals, Inc.
Butala N.,Cardinal Glennon Childrens Medical Center |
Siegfried E.,Cardinal Glennon Childrens Medical Center |
Weissler A.,Cardinal Glennon Childrens Medical Center
Pediatrics | Year: 2013
Molluscum contagiosum is a common self-limited viral skin infection. The course of the infection often includes tender, crusted, erythematous lesions that prompt suspicion for bacterial infection. However, these signs of inflammation represent a host response that often precedes resolution of the viral disease, rather than bacterial superinfection, and do not require additional antibacterial treatment. We present a case report and retrospective review of 7 additional cases to characterize the clinical presentation of inflamed molluscum, assess the utilization of medical resources, and consider the psychosocial burden associated with mistaken diagnoses of bacterial infection. We propose the acronym "BOTE"*sign (for beginning of the end) to help underscore the significance of inflammation as an expected variant in the evolution of molluscum immunity. Copyright © 2013 by the American Academy of Pediatrics.
Grim P.F.,Cardinal Glennon Childrens Medical Center
Clinical Pediatrics | Year: 2014
There is a paucity of data regarding emergency department (ED) provider type and computed tomography (CT) scan use in the evaluation of pediatric patients with abdominal pain without trauma. The purpose of this retrospective single community hospital study was to determine if there was a difference in CT use between emergency medicine physicians (EMPs) and pediatricians (PEDs) in all patients younger than 18 years with abdominal pain without trauma who presented to the ED during the study period. The study included 165 patients. EMPs saw 83 patients and used CT in 31 compared with PEDs who saw 82 patients and used CT in 12 (P =.002). EMPs used CT significantly more frequently than PEDs in the designated sample. Economic pressures may cause changes in ED provider type in community and rural hospitals and this study shows that ED provider type may affect medical decision making, including CT use. © The Author(s) 2014.
Rahman S.I.,Saint Louis University |
Siegfried E.,Cardinal Glennon Childrens Medical Center |
Flanagan K.H.,Dermatology and Laser of Alabama |
Armbrecht E.S.,Saint Louis University
Journal of the American Academy of Dermatology | Year: 2014
Background The methotrexate (MTX) polyglutamate assay has been validated in adults with arthritis. Objective We sought to assess clinical response rates and the value of the methotrexate polyglutamate assay in MTX-treated children with inflammatory skin diseases. Methods In this retrospective review, 46 MTX-treated children with a diagnosis of atopic dermatitis, psoriasis, or psoriasis-eczema overlap were serially assessed with the methotrexate polyglutamate assay. Results In all, 38 children (83%) achieved good to excellent response: 27 (59%) within 12 weeks and 11 (24%) after dose-adjustment. Good to excellent responses were highest for psoriasis/overlap: 15 of 16 (94%), compared with 23 of 30 (77%) with atopic dermatitis. Mean maximum polyglutamate levels were 31.5 nmol/L for responders versus 18.1 nmol/L for nonresponders (P =.035). This difference was also significant for the subset with atopic dermatitis, but not for those with psoriasis/overlap. After dose modification, late responders ultimately achieved a significantly higher mean maximum methotrexate polyglutamate assay (41.9 nmol/L) compared with nonresponders (P =.002). Limitations Retrospective design and small sample size were limitations. Conclusions MTX is an effective treatment for the majority of children with inflammatory skin diseases, but a subset requires dose modification to achieve good to excellent response. Methotrexate polyglutamate assay levels reflect response to treatment, but are most useful to support dose modification among children who fail to respond within 12 weeks. © 2013 by the American Academy of Dermatology, Inc.
Weaver K.,Cardinal Glennon Childrens Medical Center
Neonatal Network | Year: 2014
Lipid is an essential macronutrient in parenteral nutrition (PN) support. Intravenous (IV) lipid provides essential fatty acids and a concentrated calorie source. Preterm infants are at risk for essential fatty deficiency early in life. Lipid administration is associated with some risks, and there are guidelines for administration to minimize complications. Lipid emulsions in the United States are derived from soybean oil. Outside of the United States, lipid emulsions made from fish oil or combinations of fish, soybean, olive, and medium-chain triglycerides (MCTs) are under investigation for improved tolerance, lower plasma lipid levels, and improved fatty acid profiles, all of which are considered beneficial. Triglyceride levels are an important measurement to assess patient tolerance. © 2014 Springer Publishing Company.