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Children's hospital of philadelphia

Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Emma Paras, Matthew Butler, Brian F Maguire, Rich Scarfone
In September 2015, Pope Francis visited Philadelphia, Pennsylvania, and led outdoor events over the course of 2 days. As a result, The Children's Hospital of Philadelphia (CHOP) was faced with the challenge of planning for and responding to a mass gathering that was anticipated to be one of the largest in US history. As a result of unprecedented traffic restrictions, it was anticipated that patients, staff, and vendors would have severe challenges accessing the hospital, along with impaired communications from widespread cell phone service disruption...
September 29, 2016: Disaster Medicine and Public Health Preparedness
C B Murray, K Zebracki, K M Chlan, A C Moss, L C Vogel
STUDY DESIGN: A cross-sectional study. OBJECTIVES: The aim of this study is to determine medical and psychological correlates of pain in individuals with pediatric-onset spinal cord injury (SCI). SETTING: Shriners Hospitals for Children-Chicago, Philadelphia and Northern California (USA). METHODS: A total of 187 adults who had sustained an injury before 19 years of age completed interviews that included medical information, standardized measures of psychological functioning (Beck Anxiety Inventory and Patient Health Questionnaire) and a comprehensive pain questionnaire to assess the location, frequency, intensity and duration of pain and distress and disability related to pain...
September 27, 2016: Spinal Cord
Lisa A Hark, Eileen L Mayro, Judie Tran, Michael Pond, Rachel Schneider, Justin Torosian, Melanie Snitzer, Nooreen Dabbish, Alex V Levin
BACKGROUND: The Wills Eye Vision Screening Program for Children is a community-based vision screening program for children in urban Philadelphia elementary schools that aims to provide vision screening, remedy refractive error by providing glasses, and refer children with suspected nonrefractive eye disease for eye care. METHODS: Children in grades K-5 from 45 Philadelphia elementary schools were screened for distance and near visual acuity, stereopsis, and color vision from January 2014 to June 2015...
September 16, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Mary R Janevic, Shelley Stoll, Margaret Wilkin, Peter X K Song, Alan Baptist, Marielena Lara, Gilberto Ramos-Valencia, Tyra Bryant-Stephens, Victoria Persky, Kimberly Uyeda, Julie Kennedy Lesch, Wen Wang, Floyd J Malveaux
OBJECTIVES: To assess the effect of care coordination on asthma outcomes among children in underserved urban communities. METHODS: We enrolled children, most of whom had very poorly or not well-controlled asthma, in medical-social care coordination programs in Los Angeles, California; Chicago, Illinois; Philadelphia, Pennsylvania; and San Juan, Puerto Rico in 2011 to 2014. Participants (n = 805; mean age = 7 years) were 60% male, 50% African American, and 42% Latino...
November 2016: American Journal of Public Health
Jennifer Vodzak, Anne Marie Queenan, Emily Souder, Alan T Evangelista, Sarah S Long
BACKGROUND: B. pertussis strains lacking expression of pertactin, a bacterial adhesin and vaccine target, are emerging. There are limited data on disease manifestations of mutant strains in children. We sought to compare clinical manifestations of pertactin-deficient and pertactin-producing B. pertussis infection in infants and describe corresponding molecular characteristics. METHODS:  Molecular characterization of archived B. pertussis isolates (January 2007 - March 2014) included Western blot analysis, pulse-field gel electrophoresis (PFGE), PCR and pertactin gene sequencing...
September 13, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Jennifer W Mack, Angel M Cronin, Tammy I Kang
PURPOSE: Decision making is one of the ways in which parents serve as stewards of their children with cancer, but barriers to informed decision making among parents of children with cancer have been identified. We sought to evaluate the extent to which parents feel satisfied with, or regretful of, decisions made for their child's cancer treatment and to identify factors associated with heightened regret. METHODS: We surveyed 346 parents of children with cancer within 12 weeks of their initial cancer treatment decision and the children's physicians at Dana-Farber Cancer Institute/Boston Children's Hospital and the Children's Hospital of Philadelphia...
September 12, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Amanda M DiNofia, Xingmei Wang, Gia Yannekis, Sue Ogle, Wendy L Hobbie, Claire A Carlson, Jill P Ginsberg
BACKGROUND: Infertility can be the result of some common cancer treatments and can significantly impact quality of life. Semen cryopreservation allows for fertility preservation. We analyzed the semen parameters of specimens collected from pubertal males from the Children's Hospital of Philadelphia (CHOP) in order to expand current knowledge on the quality of these specimens and inform a standard clinical practice. PROCEDURE: Males who were at least Tanner stage III and newly diagnosed with cancer at CHOP were approached regarding sperm banking...
September 13, 2016: Pediatric Blood & Cancer
M Alizadeh, A Intintolo, D M Middleton, C J Conklin, S H Faro, M J Mulcahey, F B Mohamed
STUDY DESIGN: Quantitative study. OBJECTIVES: To evaluate the effectiveness of pediatric spinal cord diffusion tensor tractography (DTT) generated from reduced field of view diffusion tensor imaging (DTI) data and investigate whether there are differences in these values between typically developing (TD) subjects and patients with spinal cord injury (SCI). SETTING: Temple University Hospital and Shriners Hospitals for Children-Philadelphia, USA...
August 16, 2016: Spinal Cord
Norma Alicea-Alvarez, Carlo Foppiano Palacios, Melanie Ortiz, Diana Huang, Kathleen Reeves
OBJECTIVE: Minority children with asthma who live in low-income urban communities bear a disproportionate burden of the disease. This study explores the perceived health care needs related to asthma care, identifies asthma triggers, potential barriers to care, and assesses the need for additional community resources. METHODS: We conducted a cross-sectional survey of Hispanic and African American adults (n = 53) who take care of a child with asthma and live in an urban community of North Philadelphia...
August 2, 2016: Journal of Asthma: Official Journal of the Association for the Care of Asthma
Todd Lingren, Pei Chen, Joseph Bochenek, Finale Doshi-Velez, Patty Manning-Courtney, Julie Bickel, Leah Wildenger Welchons, Judy Reinhold, Nicole Bing, Yizhao Ni, William Barbaresi, Frank Mentch, Melissa Basford, Joshua Denny, Lyam Vazquez, Cassandra Perry, Bahram Namjou, Haijun Qiu, John Connolly, Debra Abrams, Ingrid A Holm, Beth A Cobb, Nataline Lingren, Imre Solti, Hakon Hakonarson, Isaac S Kohane, John Harley, Guergana Savova
OBJECTIVE: Cohort selection is challenging for large-scale electronic health record (EHR) analyses, as International Classification of Diseases 9th edition (ICD-9) diagnostic codes are notoriously unreliable disease predictors. Our objective was to develop, evaluate, and validate an automated algorithm for determining an Autism Spectrum Disorder (ASD) patient cohort from EHR. We demonstrate its utility via the largest investigation to date of the co-occurrence patterns of medical comorbidities in ASD...
2016: PloS One
Anita J Kumar, Phyllis A Gimotty, Joel Gelfand, Georgina Buck, Jacob M Rowe, Anthony H Goldstone, Adele Fielding, David I Marks, Mark Litzow, Elisabeth Paietta, Hillard M Lazarus, Martin S Tallman, Selina M Luger, Alison W Loren
Adults with acute lymphoblastic leukemia (ALL) have a poorer prognosis than children due to a high risk of relapse. One explanation may be variable adherence to dose-intense chemotherapy. However, little is known about risk factors for delays in therapy and their impact on survival. We conducted an analysis of ECOG 2993/UKALLXII trial to study delays in postremission chemotherapy in adults with newly diagnosed ALL. Logistic regression was used to identify risk factors for a very long delay (VLD, >4 weeks) in start of intensification therapy...
November 2016: American Journal of Hematology
A Hinney, M Kesselmeier, S Jall, A-L Volckmar, M Föcker, J Antel, I M Heid, T W Winkler, Y Guo, A W Bergen, W Kaye, W Berrettini, H Hakonarson, B Herpertz-Dahlmann, M de Zwaan, W Herzog, S Ehrlich, S Zipfel, K M Egberts, R Adan, M Brandys, A van Elburg, V Boraska Perica, C S Franklin, M H Tschöp, E Zeggini, C M Bulik, D Collier, A Scherag, T D Müller, J Hebebrand
No abstract text is available yet for this article.
July 26, 2016: Molecular Psychiatry
Paul Luther Shay, Jesse A Goldstein, Jason D Wink, J Thomas Paliga, Cynthia B Solot, Marilyn A Cohen, Susan A Friedman, David W Low, Jesse A Taylor, Oksana A Jackson
BACKGROUND: International adoptees with cleft lip and palate (CLP) are a growing population in the United States. They represent a clinical challenge, presenting at various ages and stages of cleft repair. METHODS: A retrospective review of patients seen at the CLP Program at the Children's Hospital of Philadelphia (CHOP) between 1998 and 2012 with a history of international adoption was performed. Demographics, surgical histories, and long-term speech outcomes were reviewed...
October 2016: Annals of Plastic Surgery
Shane M Swink, Leslie Castelo-Soccio
BACKGROUND/OBJECTIVES: Loose anagen syndrome (LAS) is a disorder of abnormal anchorage of the hair to the scalp. Its symptoms include an inability to grow hair long and hair that is easily pulled out. METHODS: We conducted a retrospective chart review of patients with LAS over the last 10 years at the Children's Hospital of Philadelphia and found 37 cases. RESULTS: LAS was more common in females and was found in all hair colors and skin types...
September 2016: Pediatric Dermatology
Jean Bennett, Jennifer Wellman, Kathleen A Marshall, Sarah McCague, Manzar Ashtari, Julie DiStefano-Pappas, Okan U Elci, Daniel C Chung, Junwei Sun, J Fraser Wright, Dominique R Cross, Puya Aravand, Laura L Cyckowski, Jeannette L Bennicelli, Federico Mingozzi, Alberto Auricchio, Eric A Pierce, Jason Ruggiero, Bart P Leroy, Francesca Simonelli, Katherine A High, Albert M Maguire
BACKGROUND: Safety and efficacy have been shown in a phase 1 dose-escalation study involving a unilateral subretinal injection of a recombinant adeno-associated virus (AAV) vector containing the RPE65 gene (AAV2-hRPE65v2) in individuals with inherited retinal dystrophy caused by RPE65 mutations. This finding, along with the bilateral nature of the disease and intended use in treatment, prompted us to determine the safety of administration of AAV2-hRPE65v2 to the contralateral eye in patients enrolled in the phase 1 study...
August 13, 2016: Lancet
Deepak Palakshappa, Alexander G Fiks, Jennifer A Faerber, Chris Feudtner
Many states have enacted laws to improve school nutrition. We tested whether stronger state nutrition laws are associated with subsequently decreased obesity. We conducted a retrospective national multi-year panel data study (analyzed 2014-2016 at the Children's Hospital of Philadelphia). The predictors were 2010 laws regarding 9 nutrition categories from the Classification of Laws Associated with School Students, which grades the strength of state laws (none, weak, or strong). The outcome was weight status (healthy weight, overweight, or obese) in elementary, middle, and high school from the 2011/2012 National Survey of Children's Health...
September 2016: Preventive Medicine
Debbie McKetta, T Eugene Day, Virginia Jones, Alexis Perri, Susan C Nicolson
BACKGROUND: Managing service disruptions is a challenge in every health care environment. Discrete event simulation (DES)--a computer modeling tool used to build in silico (that is, in a digital computer) testbeds for potential changes in complex systems--has been deployed in health care for research and quality improvement (QI), specifically in surgical suite management. A strategy for managing a 6-week planned service disruption needed to be enacted 12 weeks after the announcement, in late October 2014, of the closure of the Hybrid Suite (operating room/catheterization laboratory) for renovation, at The Children's Hospital of Philadelphia's Cardiac Center's Cardiac Operative and Imaging Complex (COIC)...
July 2016: Joint Commission Journal on Quality and Patient Safety
Elaina E Lin, Julie S Moldenhauer, Kha M Tran, David E Cohen, N Scott Adzick
The anesthetic management for open fetal surgery has been described, but many therapeutic tenets have not been supported with data. We present data on the anesthetic management and outcomes of 65 patients undergoing ex utero intrapartum therapy procedures at the Children's Hospital of Philadelphia between 1998 and 2011. Patients were identified, and medical records were retrospectively reviewed. Maternal general anesthesia combined with postoperative epidural analgesia was commonly used. High levels of volatile anesthetic were used for uterine relaxation...
August 2016: Anesthesia and Analgesia
Karen Merrigan, Elizabeth A Steinmiller, Ana Figueroa-Altmann, Katherine Finn Davis
Patient- and Family-Centered Care is a core value of The Children's Hospital of Philadelphia (CHOP). Satisfaction/ experience data are closely tracked to assist in determining if hospital staff are partnering effectively with patients and families. When opportunities for improvement were identified within the Nursing Department, an existing institutional model, KIDS CARE, was used to promote change. KIDS CARE was developed to teach and reinforce respectful behaviors for nurses initiating partnerships with patients and families...
March 2016: Pediatric Nursing
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