Medical Specialties Commons^™

An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome, C. E. Gillies, R. Putler, R. Menon, E. Otto, K. Yasutake, V. Nair, P. Hoover, D. Lieb, C. Sethna, K. Abbott, +89 Additional Authors

Journal Articles

© 2018 American Society of Human Genetics Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian …

Pilot Study Comparing The Childhood Arthritis And Rheumatology Research Alliance Consensus Treatment Plans For Induction Therapy Of Juvenile Proliferative Lupus Nephritis, J. C. Cooper, K. Rouster-Stevens, T. B. Wright, J. J. Hsu, M. S. Klein-Gitelman, S. P. Ardoin, L. E. Schanberg, H. I. Brunner, B. A. Eberhard, E. Von Scheven, +6 Additional Authors

Journal Articles

BACKGROUND: To reduce treatment variability and facilitate comparative effectiveness studies, the Childhood Arthritis and Rheumatology Research Alliance (CARRA) published consensus treatment plans (CTPs) including one for juvenile proliferative lupus nephritis (LN). Induction immunosuppression CTPs outline treatment with either monthly intravenous (IV) cyclophosphamide (CYC) or mycophenolate mofetil (MMF) in conjunction with one of three corticosteroid (steroid) CTPs: primarily oral, primarily IV or mixed oral/IV. The acceptability and in-practice use of these CTPs are unknown. Therefore, the primary aims of the pilot study were to demonstrate feasibility of adhering to the LN CTPs and delineate barriers to implementation in clinical care in …

Age Restriction Warning Label Efficacy And High School Student Consumption Of Highly-Caffeinated Products., J. Goldman, M. Zhu, T. B. Pham, R. Milanaik

Journal Articles

Age restriction warning labels (ARLs) are placed on highly-caffeinated food and drinks, such as Red Bull, to deter consumption by minors who are especially vulnerable to the risks of excessive caffeine consumption. Previous studies have shown that ARLs on media like TV programs and video games fail to discourage minors. However, it is unclear how ARLs on food and drink packages affect minors' purchasing behavior. High school students aged 14 to 17 years (n = 150, M

Realizing Effectiveness Across Continents With Hydroxyurea: Enrollment And Baseline Characteristics Of The Multicenter Reach Study In Sub-Saharan Africa., P. T. Mcgann, T. N. Williams, P. Olupot-Olupot, G. A. Tomlinson, A. Lane, J. Luís Reis Da Fonseca, R. Kitenge, G. Mochamah, B. Aygun, R. E. Ware, +7 Additional Authors

Journal Articles

Despite its well-described safety and efficacy in the treatment of sickle cell anemia (SCA) in high-income settings, hydroxyurea remains largely unavailable in sub-Saharan Africa, where more than 75% of annual SCA births occur and many comorbidities exist. Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) is a prospective, Phase I/II open-label trial of hydroxyurea designed to evaluate the feasibility, safety, and benefits of hydroxyurea treatment for children with SCA in four sub-Saharan African countries. Following comprehensive training of local research teams, REACH was approved by local Ethics Committees and achieved full enrollment ahead of projections with 635 participants enrolled …

Assessment Of A Renal Angina Index For Prediction Of Severe Acute Kidney Injury In Critically Ill Children: A Multicentre, Multinational, Prospective Observational Study., R. K. Basu, A. Kaddourah, S. L. Goldstein, A. Akcan-Arikan, M. Arnold, C. Cruz, J. Schneider, T. Sweberg, A. Kessel, J. Zaritsky, +73 Additional Authors

Journal Articles

Background: Acute kidney injury (AKI) occurs in one in four children admitted to the intensive care unit (ICU) and AKI severity is independently associated with increased patient morbidity and mortality. Early prediction of AKI has the potential to improve outcomes. In smaller, single center populations, we have previously derived and validated the performance of the renal angina index (RAI), a context driven risk stratification system, to predict severe AKI.

Methods: A prospective, observational study (AWARE

Findings: The 1590 patients studied were 55% male and had median age of 54.5 months. 286 patients (17.9%) were RA+. AKI

Interpretation: Earlier, better prediction …

Congenital Adrenal Hyperplasia Due To Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline, P. W. Speiser, W. Arlt, R. J. Auchus, L. S. Baskin, G. S. Conway, D. P. Merke, H. F. Meyer-Bahlburg, W. L. Miller, M. H. Murad, S. E. Oberfield, P. C. White

Journal Articles

Objective: To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.Conclusions: The writing committee presents updated best practice guidelines for the clinical management of congenital adrenal hyperplasia based on published evidence and expert opinion with added considerations for patient safety, quality of life, cost, and utilization.

Management Of Acute Pancreatitis In The Pediatric Population: A Clinical Report From The North American Society For Pediatric Gastroenterology, Hepatology And Nutrition Pancreas Committee., M. Abu-El-Haija, S. Kumar, J. A. Quiros, K. Balakrishnan, B. Barth, S. Bitton, J. F. Eisses, E. J. Foglio, V. Fox, V. D. Morinville, +10 Additional Authors

Journal Articles

BACKGROUND:Although the incidence of acute pancreatitis (AP) in children is increasing, management recommendations rely on adult published guidelines. Pediatric-specific recommendations are needed. METHODS:The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition Pancreas committee performed a MEDLINE review using several preselected key terms relating to management considerations in adult and pediatric AP. The literature was summarized, quality of evidence reviewed, and statements of recommendations developed. The authorship met to discuss the evidence, statements, and voted on recommendations. A consensus of at least 75% was required to approve a recommendation. RESULTS:The diagnosis of pediatric AP should follow the published INternational Study …

Same Day Discharge For Non-Perforated Appendicitis In Children: An Updated Institutional Protocol, Tolulope A. Oyetunji Md Mph

Presentations

No abstract provided.

Genotype-Phenotype Correlation In Nf1: Evidence For A More Severe Phenotype Associated With Missense Mutations Affecting Nf1 Codons 844-848, M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, Rhonda Schonberg, +Several Additional Authors

Pediatrics Faculty Publications

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons—Leu844, Cys845, Ala846, Leu847, and Gly848—located in the cysteine-serine-rich domain (CSRD). …

Genetic Programming Of Hypertension, Sun-Young Ahn, Charu Gupta

Pediatrics Faculty Publications

The heritability of hypertension (HTN) is widely recognized and as a result, extensive studies ranging from genetic linkage analyses to genome-wide association studies are actively ongoing to elucidate the etiology of both monogenic and polygenic forms of HTN. Due to the complex nature of essential HTN, however, single genes affecting blood pressure (BP) variability remain difficult to isolate and identify and have rendered the development of single-gene targeted therapies challenging. The roles of other causative factors in modulating BP, such as gene–environment interactions and epigenetic factors, are increasingly being brought to the forefront. In this review, we discuss the various …

The Effects Of An Acute Exercise Bout On Gh And Igf-1 In Prediabetic And Healthy African Americans: A Pilot Study Investigating Gene Expression, N. Berry, Monica J. Hubal, L. Wideman

Pediatrics Faculty Publications

The incidence of pre-diabetes (PD) and Type-2 Diabetes Mellitus (T2D) is a worldwide epidemic. African American (AA) individuals are disproportionately more likely to become diabetic than other ethnic groups. Over the long-term, metabolic complications related to diabetes result in significant alterations in growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Considering the limited exercise-related studies in the area of gene expression changes with disease progression, the objective of this study was to examine differences in exercise-induced gene expression related to the GH and IGF-1 pathways in peripheral blood mononuclear cells (PBMCs) of healthy (CON) and PD AA individuals. Design: Ten …

Real-Time, Label-Free, Intraoperative Visualization Of Peripheral Nerves And Microvasculatures Using Multimodal Optical Imaging Techniques, Jaepyong Cha, A Broch, S Mudge, K Kim, J Namgoong, E Oh, P Kim

Pediatrics Faculty Publications

Accurate, real-time identification and display of critical anatomic structures, such as the nerve and vasculature structures, are critical for reducing complications and improving surgical outcomes. Human vision is frequently limited in clearly distinguishing and contrasting these structures. We present a novel imaging system, which enables noninvasive visualization of critical anatomic structures during surgical dissection. Peripheral nerves are visualized by a snapshot polarimetry that calculates the anisotropic optical properties. Vascular structures, both venous and arterial, are identified and monitored in real-time using a near-infrared laser-speckle-contrast imaging. We evaluate the system by performing in vivo animal studies with qualitative comparison by contrast-agent-aided …

Adoptive T Cell Therapy For Epstein-Barr Virus Complications In Patients With Primary Immunodeficiency Disorders, L Mclaughlin, Catherine Bollard, Michael D. Keller

Pediatrics Faculty Publications

Patients with primary immunodeficiency disorders (PID) have an increased risk from acute and chronic Epstein-Barr Virus (EBV) viral infections and EBV-associated malignancies. Hematopoietic stem cell transplantation (HSCT) is a curative strategy for many patients with PID, but EBV-related complications are common in the immediate post-transplant period due to delayed reconstitution of T cell immunity. Adoptive T cell therapy with EBV-specific T cells is a promising therapeutic strategy for patients with PID both before and after HSCT. Here we review the methods used to manufacture EBV-specific T cells, the clinical outcomes, and the ongoing challenges for future development of the strategy. …

Evaluation Of Performance, Acceptance, And Compliance Of An Auto-Injector In Healthy And Rheumatoid Arthritic Subjects Measured By A Motion Capture System., Xiao Xiao, Wei Li, Corbin Clawson, David Karvani, Perceval Sondag, James K Hahn

Pediatrics Faculty Publications

Purpose: The study aimed to develop a motion capture system that can track, visualize, and analyze the entire performance of self-injection with the auto-injector.

Methods: Each of nine healthy subjects and 29 rheumatoid arthritic (RA) patients with different degrees of hand disability performed two simulated injections into an injection pad while six degrees of freedom (DOF) motions of the auto-injector and the injection pad were captured. We quantitatively measured the performance of the injection by calculating needle displacement from the motion trajectories. The max, mean, and SD of needle displacement were analyzed. Assessments of device acceptance and usability were evaluated …

Improving Outcomes After Pediatric Cardiac Arrest – The Icu-Resuscitation Project: Study Protocol For A Randomized Controlled Trial, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Collaborative Pediatric Critical Care Research Network (Cpccrn), Murray M. Pollack

Pediatrics Faculty Publications

Background

Quality of cardiopulmonary resuscitation (CPR) is associated with survival, but recommended guidelines are often not met, and less than half the children with an in-hospital arrest will survive to discharge. A single-center before-and-after study demonstrated that outcomes may be improved with a novel training program in which all pediatric intensive care unit staff are encouraged to participate in frequent CPR refresher training and regular, structured resuscitation debriefings focused on patient-centric physiology.

Methods/design

This ongoing trial will assess whether a program of structured debriefings and point-of-care bedside practice that emphasizes physiologic resuscitation targets improves the rate of survival to hospital …

Regional Microstructural Organization Of The Cerebral Cortex Is Affected By Preterm Birth., Marine Bouyssi-Kobar, Marie Brossard-Racine, Marni Jacobs, Jonathan Murnick, Taeun Chang, Catherine Limperopoulos

Pediatrics Faculty Publications

Objectives: To compare regional cerebral cortical microstructural organization between preterm infants at term-equivalent age (TEA) and healthy full-term newborns, and to examine the impact of clinical risk factors on cerebral cortical micro-organization in the preterm cohort.

Study design: We prospectively enrolled very preterm infants (gestational age (GA) at birth<32 >weeks; birthweight<1500 >g) and healthy full-term controls. Using non-invasive 3T diffusion tensor imaging (DTI) metrics, we quantified regional micro-organization in ten cerebral cortical areas: medial/dorsolateral prefrontal cortex, anterior/posterior cingulate cortex, insula, posterior parietal cortex, motor/somatosensory/auditory/visual cortex. ANCOVA analyses were performed controlling for sex and postmenstrual age at MRI.

Results: We studied …

Genetic Variation In Acid Ceramidase Predicts Non-Completion Of An Exercise Intervention., Lauren S Lewis, Kim M Huffman, Ira J Smith, Mark P Donahue, Cris A Slentz, Joseph A Houmard, Monica J Hubal, Eric P Hoffman, Elizabeth R Hauser, Ilene C Siegler, William E Kraus

Pediatrics Faculty Publications

Genetic variation is associated with a number of lifestyle behaviours; it may be associated with adherence and individual responses to exercise training. We tested single nucleotide polymorphisms (SNPs) in the acid ceramidase gene (ASAH1) for association with subject adherence and physiologic benefit with exercise training in two well-characterised randomised, controlled 8-month exercise interventions: STRRIDE I (n = 239) and STRRIDE II (n = 246). Three ASAH1 non-coding SNPs in a linkage disequilibrium block were associated with non-completion: rs2898458(G/T), rs7508(A/G), and rs3810(A/G) were associated with non-completion in both additive (OR = 1.8, 1.8, 2.0; P < 0.05 all) and dominant (OR = 2.5, 2.6, 3.5; P < 0.05 all) models; with less skeletal muscle ASAH …