Pediatrics Commons^™

Open Letter On Shaken Baby Syndrome And Courts: A False And Flawed Premise, Bill Bache, Patrick Barnes, Beverly Beech, Flo Bellone, Thomas L. Bohan, Harry J. Bonnell, Marta Cohen, D. L. Contostavlos, Peter Dale, Lina Davidson, Steven Gabaeff, Horace Gardner, Margaret Gardner, Jean Golding, A. N. Guthkelch, Charles M. Harvey, Helen Hayward-Brown, John Hemming, John C. Hunsaker Iii, Charles Hyman, Jan Leestma, James Lefanu, John Lloyd, Marvin E. Miller, Catherine Mills, George R. Nichols Ii, Michael Nott, John Plunkett, Charles Pragnell, Jean Robinson, Robert K. Rothfeder, Irene Scheimberg, Ron Uscinski, Michael Weinraub, Ed Willey, R. K. Wright, Lynne Wrennall

Pediatrics Faculty Publications

The Open Letter on Shaken Baby Syndrome and Courts has been prepared under the auspices of the International Public Health Research Group [IPHRG]. It was developed from initial drafts by Bill Bache and Charles Pragnell. Final drafting and editing was by Dr Lynne Wrennall, Executive Director of the International Public Health Research Group and the Managing Editor of Argument & Critique. The process of writing the letter has relied on the published research in the field, much of it, published research by the signatories to the letter. The process has also drawn on the iterative contribution of insights by the …

Pregnant, Even When You Did Not Want To Be Pregnant, Hatim A. Omar, Joav Merrick

Pediatrics Faculty Publications

No abstract provided.

Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn

Posters

Introduction:

Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge base of our adolescent CHD patients and their parents.

Methods:

Established CHD patients, >11 y.o. and their parents, were independently surveyed in the outpatient clinic. Participation was voluntary. Cardiomyopathy, electrophysiology and transplant patients were excluded. Scores were assessed as full, partial or incomplete.

Results:

Most (98% parents; 83% adolescents) reported that their cardiologist had provided education. Adolescents provided a full (49%) and partial …

Knowledge Gap In Adolescent Heart Transplant Recipients, Pamela Finn, Brian Birnbaum, Audrey R. Kennedy, Jennifer A. Marshall, Mark Gelatt

Posters

Background:

 Studies have reported a knowledge gap Studies have reported a knowledge gap among adolescent and young adult heart heart transplant patients upon transitioning to adult cardiology practices.

 This population is vulnerable to life-threatening complications as they progress to adult care.

Framework/Methods:

We assess the current knowledge deficit of our adolescent and young adult patients and their caregivers in order to inform pediatric providers of their unique needs as they prepare to transition.

Heart transplant patients >10 yrs and their caregivers completed a written questionnaire prior to a clinic visit. 17 questions were asked including the need for …

Innovative Evaluation Of Dexterity In Pediatrics, Susan V. Duff, Dorit H. Aaron, Gloria R. Gogola, Francisco J. Valero-Cuevas

Physical Therapy Faculty Articles and Research

Introduction

Hand dexterity is multifaceted and essential to the performance of daily tasks. Timed performance and precision demands are the most common features of quantitative dexterity testing. Measurement concepts such as rate of completion, in-hand manipulation and dynamic force control of instabilities are being integrated into assessment tools for the pediatric population.

Purpose

To review measurement concepts inherent in pediatric dexterity testing and introduce concepts that are infrequently measured or novel as exemplified with two assessment tools.

Methods

Measurement concepts included in common assessment tools are introduced first. We then describe seldom measured and novel concepts embedded in two instruments; …

Complex Care Curriculum: Autonomic Dysreflexia, Jimmy Beck, Rebekah Conroy

E-Learning Modules

Children with special health care needs (CSHCN) are increasingly prevalent in US hospitals. The pediatric hospitalist is often the primary provider of inpatient care for these patients. However, exposure to this patient population during training varies from provider to provider. No published educational curricula are specific to the inpatient care of this population. The purpose of this project is to build a multi-modal educational curriculum for providers with the overall goal of improving inpatient care for this at-risk population.

This curriculum is primarily composed of a series of topic-specific learning modules. Asynchronous learning modules, utilized appropriately, can augment learning by …

A Missed Opportunity For Shared Responsibility In Adolescent Contraception, Vasiliki Rahimzadeh

Journal of Adolescent and Family Health

The American Academy of Pediatrics Committee on Adolescence recently endorsed IUDs as the clinical contraceptive method of choice among sexually active adolescents. This commentary highlights the ways in which these recommendations reinforce a gender normative notion that contraceptive responsibilities continue to lie squarely with young women, and now adolescent girls. It critiques the absence of guidance from the Committee regarding how to approach both sexual partners equally in discussions of contraception. The reflection also identifies paucity in how to address sexual health among trans/intersexed adolescents and those with complex sexual orientations. Such exclusion has adverse implications, inviting marginalization of young …

Clinical Assessment Of The Infant And Child Following Perinatal Brachial Plexus Injury, Susan V. Duff, Carol Dematteo

Physical Therapy Faculty Articles and Research

Introduction

After perinatal brachial plexus injury (PBPI), clinicians play an important role in injury classification as well as the assessment of recovery and secondary conditions. Early assessment guides the initial plan of care and influences follow-up and long-term outcome.

Purpose

To review methods used to assess, classify and monitor the extent and influence of PBPI with an emphasis on guidelines for clinicians.

Methods

We use The International Classification of Functioning, Disability, and Health (ICF) model to provide a guide to assessment after PBPI for rehabilitation clinicians.

Discussion

With information gained from targeted assessments, clinicians can design interventions to increase the …

Understanding Early Organogenesis Using A Simplified In Situ Hybridization Protocol In Xenopus, Steven J. Deimling, Rami R. Halabi, Stephanie A. Grover, Jean H. Wang, Thomas A. Drysdale

Paediatrics Publications

Organogenesis is the study of how organs are specified and then acquire their specific shape and functions during development. The Xenopuslaevis embryo is very useful for studying organogenesis because their large size makes them very suitable for identifying organs at the earliest steps in organogenesis. At this time, the primary method used for identifying a specific organ or primordium is whole mount in situ hybridization with labeled antisense RNA probes specific to a gene that is expressed in the organ of interest. In addition, it is relatively easy to manipulate genes or signaling pathways in Xenopus and in situ hybridization …

Altered Protease And Antiprotease Balance During A Copd Exacerbation Contributes To Mucus Obstruction, Shashi Chillappagari, Jenni Preuss, Sebastian Licht, Christian Müller, Poornima Mahavadi, Gaurav Sarode, Claus Vogelmeier, Andreas Guenther, Lutz Narlich, Bruce K. Rubin, Markus O. Henke

Pediatrics Publications

Background

Proteases have been shown to degrade airway mucin proteins and to damage the epithelium impairing mucociliary clearance. There are increased proteases in the COPD airway but changes in protease-antiprotease balance and mucin degradation have not been investigated during the course of a COPD exacerbation. We hypothesized that increased protease levels would lead to mucin degradation in acute COPD exacerbations.

Methods

We measured neutrophil elastase (NE) and alpha 1 protease inhibitor (A1-PI) levels using immunoblotting, and conducted protease inhibitor studies, zymograms, elastin substrate assays and cigarette smoke condensate experiments to evaluate the stability of the gel-forming mucins, MUC5AC and MUC5B, …

Variability In Splanchnic Tissue Oxygenation During Preterm Red Blood Cell Transfusion Given For Symptomatic Anaemia May Reveal A Potential Mechanism Of Transfusion-Related Acute Gut Injury, Sean M. Bailey, Karen D. Hendricks-Muñoz, Pradeep V. Mally

Pediatrics Publications

Background

There is increasing evidence indicating an association between red blood cell (RBC) transfusions and necrotising enterocolitis (NEC) in preterm infants, especially late-onset NEC. This phenomenon is referred to as transfusion-related acute gut injury (TRAGI). One theory as to a pathophysiological mechanism is that transfusion may result in an ischemia-reperfusion injury to intestinal tissue. We tested the hypothesis that there is significantly greater variability during transfusion in splanchnic tissue oxygen saturation (SrSO2) than in cerebral tissue oxygen saturation (CrSO2).

Materials and methods

This was a prospective, observational study using near-infrared spectroscopy to monitor SrSO2 and CrSO2in preterm neonates undergoing RBC …

Imitation By Combination: Preschool Age Children Evidence Summative Imitation In A Novel Problem-Solving Task., Francys Subiaul, Edward Krajkowski, Elizabeth E Price, Alexander Etz

Pediatrics Faculty Publications

Children are exceptional, even 'super,' imitators but comparatively poor independent problem-solvers or innovators. Yet, imitation and innovation are both necessary components of cumulative cultural evolution. Here, we explored the relationship between imitation and innovation by assessing children's ability to generate a solution to a novel problem by imitating two different action sequences demonstrated by two different models, an example of imitation by combination, which we refer to as "summative imitation." Children (N = 181) from 3 to 5 years of age and across three experiments were tested in a baseline condition or in one of six demonstration conditions, varying in …

Treatment Planning And Patient Positioning For Mr-Guided High Intensity Focused Ultrasound Treatment: A Systematic Approach, David Kinnaird, Doug Wackerle, Daniel Yang, Matthew E. Oetgen, Avinash Eranki, Aerang Kim, +5 Additional Authors

Pediatrics Faculty Publications

No abstract provided.

Neurologic Recovery After An Exam Consistent With Brain Death In An Adolescent With Severe Asthma, L. B. Glater-Welt, A. D. Kessel

Journal Articles

No abstract provided.

Not Just Painless Bleeding: Meckel's Diverticulum As A Cause Of Small Bowel Obstruction In Children-Two Cases And A Review Of The Literature, K. Itriyeva, M. Harris, J. Rocker, R. Gochman

Journal Articles

Physicians are educated with the classical teaching that symptomatic patients with Meckel's diverticulum (MD) most often present with painless rectal bleeding. However, a review of the literature reveals that young patients with MD will most commonly present with signs of intestinal obstruction, an etiology not frequency considered in patients presenting to the emergency department with obstruction. We present two cases of intestinal obstruction diagnosed in our emergency department, with Meckel's diverticulum being the etiology.

First Human Treatment With Investigational Rhgus Enzyme Replacement Therapy In An Advanced Stage Mps Vii Patient, J. E. Fox, L. Volpe, J. Bullaro, E. D. Kakkis, W. S. Sly

Journal Articles

Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is a very rare lysosomal storage disease caused by a deficiency of the enzyme beta-glucuronidase (GUS), which is required for the degradation of three glycosaminoglycans (GAGs): dermatan sulfate, heparan sulfate, and chondroitin sulfate. Progressive accumulation of these GAGs in lysosomes leads to increasing dysfunction in numerous tissues and organs. Enzyme replacement therapy (ERT) has been used successfully for other MPS disorders, but there is no approved treatment for MPS VII. Here we describe the first human treatment with recombinant human GUS (rhGUS), an investigational therapy for MPS VII, in a 12-year old boy …

Alemtuzumab Pharmacokinetics In Hematopoietic Stem Cell Transplants For Nonmalignant Genetic Diseases, A. Jain, I. Sahdev

Journal Articles

No abstract provided.

Association Of Prenatal Perchlorate, Thiocyanate, And Nitrate Exposure With Neonatal Size And Gestational Age, K. A. Evans, D. Q. Rich, B. Weinberger, A. M. Vetrano, L. Valentin-Blasini, P. O. Strickland, B. C. Blount

Journal Articles

BACKGROUND: Perchlorate and similar anions compete with iodine for uptake into the thyroid by the sodium iodide symporter (NIS). This may restrict fetal growth via impaired thyroid hormone production. METHODS: We collected urine samples from 107 pregnant women and used linear regression to estimate differences in newborn size and gestational age associated with increases in perchlorate, thiocyanate, nitrate, and perchlorate equivalence concentrations (PEC; measure of total NIS inhibitor exposure). RESULTS: NIS inhibitor concentrations were not associated with newborn weight, length, or gestational age. Each 2.62ng/mug creatinine increase in perchlorate was associated with smaller head circumference (0.32cm; 95% CI: -0.66, 0.01), …

De Novo Mutations In Congenital Heart Disease With Neurodevelopmental And Other Congenital Anomalies, J. Homsy, S. Zaidi, Y. Shen, J. S. Ware, K. E. Samocha, K. J. Karczewski, S. R. Depalma, D. Mckean, A. Romano-Adesman, W. K. Chung, +31 Additional Authors

Journal Articles

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, …

Differences In Birth Weight Associated With The 2008 Beijing Olympics Air Pollution Reduction: Results From A Natural Experiment, D. Q. Rich, K. Liu, J. Zhang, S. W. Thurston, T. P. Stevens, Y. Pan, C. Kane, B. Weinberger, P. Ohman-Strickland, +3 Additional Authors

Journal Articles

BACKGROUND: Previous studies have reported decreased birth weight associated with increased air pollutant concentrations during pregnancy. However, it is not clear when during pregnancy increases in air pollution are associated with the largest differences in birth weight. OBJECTIVES: Using the natural experiment of air pollution declines during the 2008 Beijing Olympics, we evaluated whether having specific months of pregnancy (i.e., 1st...8th) during the 2008 Olympics period was associated with larger birth weights, compared with pregnancies during the same dates in 2007 or 2009. METHODS: Using n = 83,672 term births to mothers residing in four urban districts of Beijing, we …

Congenital Adrenal Hyperplasia, P. W. Speiser

Journal Articles

Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management.

Comparing Segmented Asl Perfusion Of Vascular Territories Using Manual Versus Semiautomated Techniques In Children With Sickle Cell Anemia, K. J. Helton, J. O. Glass, W. E. Reddick, A. Paydar, A. R. Zandieh, R. Dave, M. P. Smeltzer, S. Wu, B. Aygun, R. J. Ogg, +1 Additional Author

Journal Articles

PURPOSE: Elevated cerebral blood flow (CBF) in sickle cell anemia (SCA) is an adaptive pathophysiologic response associated with decreased vascular reserve and increased risk for ischemia. We compared manual (M) and semiautomated (SA) vascular territory delineation to facilitate standardized evaluation of CBF in children with SCA. MATERIALS AND METHODS: ASL perfusion values from 21 children were compared for gray matter and white matter (WM) in vascular territories defined by M and SA delineation. SA delineated CBF was compared with clinical and hematologic variables acquired within 4 weeks of the MRI. RESULTS: CBF measurements from M (MCA 82 left, 79 right) …

High Incidence Of Noonan Syndrome Features Including Short Stature And Pulmonic Stenosis In Patients Carrying Nf1 Missense Mutations Affecting P.Arg1809: Genotype-Phenotype Correlation, K. Rojnueangnit, J. Xie, A. Gomes, A. Sharp, T. Callens, Y. Chen, Y. Liu, M. Cochran, M. G. Bialer, L. Messiaen, +63 Additional Authors

Journal Articles

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple cafe-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly …

Growth And Tolerance Of Preterm Infants Fed A New Extensively Hydrolyzed Liquid Human Milk Fortifier, J. H. Kim, G. Chan, R. Schanler, S. Groh-Wargo, B. Bloom, R. Dimmit, L. Williams, G. Baggs, B. Barrett-Reis

Journal Articles

No abstract provided.

[In Time: Human Milk Is The Feeding Strategy To Prevent Necrotizing Enterocolitis], R. J. Schanler

Journal Articles

No abstract provided.

Inherited Disorders Of Bilirubin Clearance, N. Memon, B. I. Weinberger, T. Hegyi, L. M. Aleksunes

Journal Articles

Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g., Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), (iii) bilirubin excretion into bile (Dubin-Johnson syndrome), or (iv) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.Pediatric Research (2015); doi:10.1038/pr.2015.247.

Interactions Between Plasmodium Falciparum Skeleton-Binding Protein 1 And The Membrane Skeleton Of Malaria-Infected Red Blood Cells, L. M. Kats, N. I. Proellocks, D. W. Buckingham, L. Blanc, J. Hale, X. Guo, X. Pei, S. Herrmann, E. G. Hanssen, B. M. Cooke, +3 Additional Authors

Journal Articles

During development inside red blood cells (RBCs), Plasmodium falciparum malaria parasites export proteins that associate with the RBC membrane skeleton. These interactions cause profound changes to the biophysical properties of RBCs that underpin the often severe and fatal clinical manifestations of falciparum malaria. P. falciparum erythrocyte membrane protein 1 (PfEMP1) is one such exported parasite protein that plays a major role in malaria pathogenesis since its exposure on the parasitised RBC surface mediates their adhesion to vascular endothelium and placental syncytioblasts. En route to the RBC membrane skeleton, PfEMP1 transiently associates with Maurer's clefts (MCs), parasite-derived membranous structures in the …

Predictors Of Resolution And Persistence Of Renal Laboratory Abnormalities In Pediatric Hiv Infection, C. D. Mitchell, M. C. Chernoff, G. R., 3rd Seage, M. U. Purswani, H. M. Spiegel, G. Zilleruelo, C. Abitbol, B. Heckman, J. M. Oleske, V. Bonagura, Impaact 219/219c Study Team

Journal Articles

BACKGROUND: Among human immunodeficiency virus (HIV)-infected youth, the role of renal disease (RD) and its management has become increasingly important as these children/adolescents mature into young adults. The identification of predictors of abnormal renal laboratory events (RLE) may be helpful in the management of their HIV infection and its associated renal complications. METHODS: Data collected from HIV-infected youth followed for >/= 48 months were analyzed to identify predictors of resolution versus persistence of RLE and determine the utility of RLE to predict the onset of RD. Analysis included descriptive and inferential methods using a multivariable extended Cox proportional hazards model. …

Prevention Of Conversion To Abnormal Tcd With Hydroxyurea In Sickle Cell Anemia: A Phase Iii International Randomized Clinical Trial, J. S. Hankins, M. B. Mccarville, A. Rankine-Mullings, M. E. Reid, C. L. Lobo, P. G. Moura, S. Ali, D. Soares, B. Aygun, R. E. Ware, +7 Additional Authors

Journal Articles

Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (>/=200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was an NHLBI-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in …

Prkag2 Mutation: An Easily Missed Cardiac Specific Non-Lysosomal Glycogenosis, V. Aggarwal, N. Dobrolet, S. Fishberger, J. Zablah, P. Jayakar, Z. Ammous

Journal Articles

Mutations in PRKAG2 gene that regulates the gamma2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misdiagnosed as hypertrophic cardiomyopathy (HOCM) and/or Wolf-Parkinson White (WPW) syndrome due to similar clinical phenotype. Early recognition of this disease entity is very important as ablation of suspected accessory pathways is not effective and the natural history of the disease is very different from HOCM and WPW syndrome.