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Articles 6691 - 6720 of 9028

Full-Text Articles in Medicine and Health Sciences

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 Jan 2018

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 …

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Same Day Discharge For Non-Perforated Appendicitis In Children: An Updated Institutional Protocol, Tolulope A. Oyetunji Md Mph Jan 2018

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

Presentations

No abstract provided.

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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 Jan 2018

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). …

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Genetic Programming Of Hypertension, Sun-Young Ahn, Charu Gupta Jan 2018

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 …

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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 Jan 2018

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 …

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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 Jan 2018

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 …

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Adoptive T Cell Therapy For Epstein-Barr Virus Complications In Patients With Primary Immunodeficiency Disorders, L Mclaughlin, Catherine Bollard, Michael D. Keller Jan 2018

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. …

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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 Jan 2018

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 …

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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 Jan 2018

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 …

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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 Jan 2018

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 …

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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 Jan 2018

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 …

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Waking Up Every Day In A Body That Is Not Yours: A Qualitative Research Inquiry Into The Intersection Between Eating Disorders And Pregnancy, Elizabeth A. Claydon, Danielle M. Davidov, Keith J. Zullig, Christa L. Lilly, Lesley Cattrell, Stephanie C. Zerwas Jan 2018

Waking Up Every Day In A Body That Is Not Yours: A Qualitative Research Inquiry Into The Intersection Between Eating Disorders And Pregnancy, Elizabeth A. Claydon, Danielle M. Davidov, Keith J. Zullig, Christa L. Lilly, Lesley Cattrell, Stephanie C. Zerwas

Faculty & Staff Scholarship

Background: Women with eating disorders are more likely to negatively react to finding out they are pregnant, although this difference in attitudes between women with eating disorders and controls disappears at 18-weeks’ gestation. Those with anorexia also are twice as likely to have an unplanned pregnancy and those with bulimia have a 30-fold increased chance compared with healthy controls. Therefore, due to these considerations, pregnancy and the transition to motherhood can be an extremely challenging time for these women both psychologically and physically. The purpose of this qualitative descriptive study was to understand the intersection between eating disorders and pregnancy …

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A Small Molecule P53 Activator Attenuates Fanconi Anemia Leukemic Stem Cell Proliferation, Wei Du, Xiaoli Li, Andrew F. Wilson, Qishen Pang Jan 2018

A Small Molecule P53 Activator Attenuates Fanconi Anemia Leukemic Stem Cell Proliferation, Wei Du, Xiaoli Li, Andrew F. Wilson, Qishen Pang

Faculty & Staff Scholarship

Although p53 mutations are common in solid tumors, such mutations are found at a lower frequency in hematologic malignancies. In the genetic disorder Fanconi anemia (FA), p53 has been proposed as an important pathophysiological factor for two important hematologic hallmarks of the disease: bone marrow failure and leukemogenesis. Here we show that low levels of the p53 protein enhance the capacity of leukemic stem cells from FA patients to repopulate immunodeficient mice. Furthermore, boosting p53 protein levels with the use of the small molecule Nutlin-3 reduced leukemia burden in recipient mice. These results demonstrate that the level of p53 protein …

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The Complementary Health Approaches For Pain Survey (Chaps): Validity Testing And Characteristics Of A Rural Population With Pain, Termeh Feinberg, Dina L. Jones, Christa Lilly, Amna Umer, Kim Innes Jan 2018

The Complementary Health Approaches For Pain Survey (Chaps): Validity Testing And Characteristics Of A Rural Population With Pain, Termeh Feinberg, Dina L. Jones, Christa Lilly, Amna Umer, Kim Innes

Faculty & Staff Scholarship

Objectives

Little is known about patterns and correlates of Complementary Health Approaches (CHAs) in chronic pain populations, particularly in rural, underserved communities. This article details the development and implementation of a new survey instrument designed to address this gap, the Complementary Health Approaches for Pain Survey (CHAPS).

Design

Following pilot-testing using pre-specified criteria to assess quality and comprehension in our target population, and after feedback regarding face-validity from content experts and stakeholders, the final cross-sectional self-report survey required 10–12 minutes to com- plete. It contained 69 demographic, lifestyle and health-related factors, and utilized a Trans- theoretical Model (TTM) underpinning to …

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Short Term Evaluation Of Respiratory Effort By Premature Infants Supported With Bubble Nasal Continuous Airway Pressure Using Seattle-Pap And A Standard Bubble Device, Stephen E. Welty, Craig G. Rusin, Larissa I. Stanberry, George T. Mandy, Alfred L. Gest, Jeremy M. Ford, Carl H. Backes Jr, C. Peter Richardson, Christopher R. Howard, Thomas N. Hansen, Charles V. Smith Jan 2018

Short Term Evaluation Of Respiratory Effort By Premature Infants Supported With Bubble Nasal Continuous Airway Pressure Using Seattle-Pap And A Standard Bubble Device, Stephen E. Welty, Craig G. Rusin, Larissa I. Stanberry, George T. Mandy, Alfred L. Gest, Jeremy M. Ford, Carl H. Backes Jr, C. Peter Richardson, Christopher R. Howard, Thomas N. Hansen, Charles V. Smith

Faculty & Staff Scholarship

Background

Almost one million prematurely born infants die annually from respiratory insufficiency, pre- dominantly in countries with limited access to respiratory support for neonates. The primary hypothesis tested in the present study was that a modified device for bubble nasal continu- ous positive airway pressure (Bn-CPAP) would provide lower work of spontaneous breath- ing, estimated by esophageal pressure-rate products.

Methods

Infants born

Results

All 40 infants enrolled completed the study and follow-up through 36 wks post menstrual age or hospital discharge, whichever came first. No infants were on supplemental oxygen at completion of follow-up. No infants developed pneumothoraces or nasal …

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Pseudomonas Aeruginosa Algr Phosphorylation Status Differentially Regulates Pyocyanin And Pyoverdine Production, Alexander S. Little, Yuta Okkotsu, Alexandria A. Reinhart, Heath Damron, Mariette Barbier, Brandon Barrett, Amanda G. Ogledby-Sherrouse, Joanna B. Goldberg, William L. Cody, Michael J. Schurr, Michael L. Vasil Jan 2018

Pseudomonas Aeruginosa Algr Phosphorylation Status Differentially Regulates Pyocyanin And Pyoverdine Production, Alexander S. Little, Yuta Okkotsu, Alexandria A. Reinhart, Heath Damron, Mariette Barbier, Brandon Barrett, Amanda G. Ogledby-Sherrouse, Joanna B. Goldberg, William L. Cody, Michael J. Schurr, Michael L. Vasil

Faculty & Staff Scholarship

Pseudomonas aeruginosa employs numerous, complex regulatory ele- ments to control expression of its many virulence systems. The P. aeruginosa AlgZR two-component regulatory system controls the expression of several crucial viru- lence phenotypes. We recently determined, through transcriptomic profiling of a PAO1 ΔalgR mutant strain compared to wild-type PAO1, that algZR and hemCD are cotranscribed and show differential iron-dependent gene expression. Previous ex- pression profiling was performed in strains without algR and revealed that AlgR acts as either an activator or repressor, depending on the gene. Thus, examination of P. aeruginosa gene expression from cells locked into different AlgR phosphorylation states …

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A Retrospective Database Analysis Of Neonatal Morbidities To Evaluate A Composite Endpoint For Use In Preterm Labor Clinical Trials, Jeanne M. Pimenta, Myla Ebeling, Timothy H. Montague, Kathleen J. Beach, Jill Abell, Michael T. O'Shea, Macy Powell, Thomas C. Hulsey Jan 2018

A Retrospective Database Analysis Of Neonatal Morbidities To Evaluate A Composite Endpoint For Use In Preterm Labor Clinical Trials, Jeanne M. Pimenta, Myla Ebeling, Timothy H. Montague, Kathleen J. Beach, Jill Abell, Michael T. O'Shea, Macy Powell, Thomas C. Hulsey

Faculty & Staff Scholarship

Objective To propose and assess a composite endpoint (CE) of neonatal benefit based on neonatal mortality and morbidities by gestational age (GA) for use in preterm labor clinical trials. Study Design A descriptive, retrospective analysis of the Medical University of South Carolina Perinatal Information System database was conducted. Neonatal morbidities were assessed for inclusion in the CE based on clinical significance/risk of childhood neurodevelopmental impairment, frequency, and association with GA in a mother– neonate linked cohort, comprising women with uncomplicated singleton pregnancies delivered at !24 weeks’ GA.

Results Among 17,912 mother–neonate pairs, neonates were at a risk of numerous severe …

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Absolute Lymphocyte And Neutrophil Counts In Neonatal Ischemic Brain Injury, Jessica M. Povroznik, Elizabeth B. Engler-Chiurazzi, Tania Nanavati, Paola Pergami Jan 2018

Absolute Lymphocyte And Neutrophil Counts In Neonatal Ischemic Brain Injury, Jessica M. Povroznik, Elizabeth B. Engler-Chiurazzi, Tania Nanavati, Paola Pergami

Faculty & Staff Scholarship

Objectives: This study aimed to identify differences in absolute neutrophils, lymphocytes, and neutrophil-to-lymphocyte ratio between neonates with two forms of ischemic brain injury, hypoxic-ischemic encephalopathy, and acute ischemic stroke, compared to controls. We also aimed to determine whether this neutrophil/lymphocyte response pattern is associated with disease severity or is a consequence of the effects of total-body cooling, an approved treatment for moderate-to-severe hypoxic-ischemic encephalopathy. Methods: A retrospective chart review of 101 neonates with hypoxic-ischemic encephalopathy + total-body cooling (n = 26), hypoxic-ischemic encephalopathy (n=12), acute ischemic stroke (n=15), and transient tachypnea of the newborn (n=48) was conducted; transient tachypnea of …

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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, +14 Additional Authors Jan 2018

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, +14 Additional Authors

Journal Articles

No abstract provided.

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Microarray Analysis Of Human Keratinocytes From Different Anatomic Sites Reveals Site-Specific Immune Signaling And Responses To Human Papillomavirus Type 16 Transfection, M. Israr, D. Rosenthal, L. Frejo-Navarro, J. Devoti, C. Meyers, V. R. Bonagura Jan 2018

Microarray Analysis Of Human Keratinocytes From Different Anatomic Sites Reveals Site-Specific Immune Signaling And Responses To Human Papillomavirus Type 16 Transfection, M. Israr, D. Rosenthal, L. Frejo-Navarro, J. Devoti, C. Meyers, V. R. Bonagura

Journal Articles

No abstract provided.

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Delays To Care In Pediatric Lupus Patients: Data From The Childhood Arthritis And Rheumatology Research Alliance Legacy Registry., Tamar B Rubinstein, Wenzhu B Mowrey, Norman T Ilowite, Dawn M Wahezi, L. Abramson, E. Anderson, M. Andrew, N. Battle, J. Chang, B. Gottlieb, +90 Additional Authors Jan 2018

Delays To Care In Pediatric Lupus Patients: Data From The Childhood Arthritis And Rheumatology Research Alliance Legacy Registry., Tamar B Rubinstein, Wenzhu B Mowrey, Norman T Ilowite, Dawn M Wahezi, L. Abramson, E. Anderson, M. Andrew, N. Battle, J. Chang, B. Gottlieb, +90 Additional Authors

Journal Articles

OBJECTIVE: Prompt treatment for lupus is important to prevent morbidity. A potential barrier to early treatment of pediatric lupus is delayed presentation to a pediatric rheumatologist. To better understand factors contributing to delayed presentation among pediatric lupus patients, we examined differences in demographic and clinical characteristics of lupus patients within the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Legacy Registry with regard to time between symptom onset and presentation to a pediatric rheumatologist.

METHODS: We analyzed data from 598 CARRA Legacy Registry participants for differences between those who presented early (withinonset), between 1-3 months (typical presentation), with moderate delays (3-12 …

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Cow's Milk Protein-Induced Villous Atrophy And Elevated Celiac Autoimmunity In Children With Celiac Disease On A Glutten-Free Diet: A Report Of Three Cases, Kristin Capone, Naire Sansotta, Pankaj Vohra, Stefano Guandalini Jan 2018

Cow's Milk Protein-Induced Villous Atrophy And Elevated Celiac Autoimmunity In Children With Celiac Disease On A Glutten-Free Diet: A Report Of Three Cases, Kristin Capone, Naire Sansotta, Pankaj Vohra, Stefano Guandalini

Pediatrics Research and Scholarship

Objective: To describe the serologic and histologic response of three patients with celiac disease who had persistent autoimmunity and villous atrophy despite a strict gluten-free diet, to the elimination of cow's milk protein.

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Somatic Mosaicism Of An Intragenic Fancb Duplication In Both Fibroblast And Peripheral Blood Cells Observed In A Fanconi Anemia Patient Leads To Milder Phenotype, R. S. Asur, D. C. Kimble, F. P. Lach, M. Jung, F. X. Donovan, A. Kamat, R. J. Noonan, J. W. Thomas, A. Vlachos, S. C. Chandrasekharappa, +4 Additional Authors Jan 2018

Somatic Mosaicism Of An Intragenic Fancb Duplication In Both Fibroblast And Peripheral Blood Cells Observed In A Fanconi Anemia Patient Leads To Milder Phenotype, R. S. Asur, D. C. Kimble, F. P. Lach, M. Jung, F. X. Donovan, A. Kamat, R. J. Noonan, J. W. Thomas, A. Vlachos, S. C. Chandrasekharappa, +4 Additional Authors

Journal Articles

© 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. Methods: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of …

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Business Travel-Associated Illness: A Geosentinel Analysis, L. H. Chen, K. Leder, K. A. Barbre, P. Schlagenhauf, M. Libman, J. Keystone, M. Mendelson, P. Gautret, S. Hagmann, S. Kuhn, +81 Additional Authors Jan 2018

Business Travel-Associated Illness: A Geosentinel Analysis, L. H. Chen, K. Leder, K. A. Barbre, P. Schlagenhauf, M. Libman, J. Keystone, M. Mendelson, P. Gautret, S. Hagmann, S. Kuhn, +81 Additional Authors

Journal Articles

© International Society of Travel Medicine, 2017. Published by Oxford University Press. All rights reserved. Background: Analysis of a large cohort of business travelers will help clinicians focus on frequent and serious illnesses. We aimed to describe travel-related health problems in business travelers. Methods: GeoSentinel Surveillance Network consists of 64 travel and tropical medicine clinics in 29 countries; descriptive analysis was performed on ill business travelers, defined as persons traveling for work, evaluated after international travel 1 January 1997 through 31 December 2014. Results: Among 12 203 business travelers seen 1997-2014 (14 045 eligible diagnoses), the majority (97%) were adults …

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Enhanced Contribution Of Hla In Pediatric Onset Ulcerative Colitis, S. Venkateswaran, J. Prince, D. J. Cutler, U. M. Marigorta, D. T. Okou, S. Prahalad, D. Mack, B. Boyle, J. Markowitz, S. Kugathasan, +20 Additional Authors Jan 2018

Enhanced Contribution Of Hla In Pediatric Onset Ulcerative Colitis, S. Venkateswaran, J. Prince, D. J. Cutler, U. M. Marigorta, D. T. Okou, S. Prahalad, D. Mack, B. Boyle, J. Markowitz, S. Kugathasan, +20 Additional Authors

Journal Articles

© 2018 Crohn's & Colitis Foundation. Published by Oxford University Press on behalf of Crohn's & Colitis Foundation. Background The genetic contributions to pediatric onset ulcerative colitis (UC), characterized by severe disease and extensive colonic involvement, are largely unknown. In adult onset UC, Genome Wide Association Study (GWAS) has identified numerous loci, most of which have a modest susceptibility risk (OR 0.84-1.14), with the exception of the human leukocyte antigen (HLA) region on Chromosome 6 (OR 3.59). Method To study the genetic contribution to exclusive pediatric onset UC, a GWAS was performed on 466 cases with 2099 healthy controls using …

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Barriers To Adherence In Juvenile Idiopathic Arthritis: A Multicenter Collaborative Experience And Preliminary Results, L. A. Favier, J. Taylor, K. L. Rich, K. B. Jones, S. S. Vora, J. G. Harris, B. S. Gottlieb, L. Robbins, J. T. Lai, A. C. Modi, +7 Additional Authors Jan 2018

Barriers To Adherence In Juvenile Idiopathic Arthritis: A Multicenter Collaborative Experience And Preliminary Results, L. A. Favier, J. Taylor, K. L. Rich, K. B. Jones, S. S. Vora, J. G. Harris, B. S. Gottlieb, L. Robbins, J. T. Lai, A. C. Modi, +7 Additional Authors

Journal Articles

© 2018. All rights reserved. Objective. Nonadherence is currently an underrecognized and potentially modifiable obstacle to care in juvenile idiopathic arthritis (JIA). The purpose of our study was to design and implement a standardized approach to identifying adherence barriers for youth with JIA across 7 pediatric rheumatology clinics through the Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) and to assess the frequency of adherence barriers in patients and their caregivers across treatment modalities. Methods. An iterative process using coproduction among parents and providers of patients with JIA was used to design the Barriers Assessment Tool to screen for adherence …

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Increased Prevalence Of Congenital Heart Disease In Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia As A Cause Of Congenital Heart Disease In The General Population: A Report Of The Diamond Blackfan Anemia Registry., A. Vlachos, D. S. Osorio, E. Atsidaftos, J. Kang, M. L. Lababidi, H. S. Seiden, D. Gruber, B. E. Glader, K. Onel, J. M. Lipton, +6 Additional Authors Jan 2018

Increased Prevalence Of Congenital Heart Disease In Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia As A Cause Of Congenital Heart Disease In The General Population: A Report Of The Diamond Blackfan Anemia Registry., A. Vlachos, D. S. Osorio, E. Atsidaftos, J. Kang, M. L. Lababidi, H. S. Seiden, D. Gruber, B. E. Glader, K. Onel, J. M. Lipton, +6 Additional Authors

Journal Articles

No abstract provided.

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A Functional Assay For The Clinical Annotation Of Genetic Variants Of Uncertain Significance In Diamond–Blackfan Anemia, A. Aspesi, M. Betti, M. Sculco, C. Actis, C. Olgasi, M. W. Wlodarski, A. Vlachos, J. M. Lipton, U. Ramenghi, I. Dianzani, +3 Additional Authors Jan 2018

A Functional Assay For The Clinical Annotation Of Genetic Variants Of Uncertain Significance In Diamond–Blackfan Anemia, A. Aspesi, M. Betti, M. Sculco, C. Actis, C. Olgasi, M. W. Wlodarski, A. Vlachos, J. M. Lipton, U. Ramenghi, I. Dianzani, +3 Additional Authors

Journal Articles

© 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. Diamond–Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP) genes. Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more …

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Minimum Quality Threshold In Pre-Clinical Sepsis Studies (Mqtipss): An International Expert Consensus Initiative For Improvement Of Animal Modeling In Sepsis, M. F. Osuchowski, A. Ayala, S. Bahrami, M. Bauer, M. Boros, J. M. Cavaillon, I. H. Chaudry, C. Deutschman, P. Wang, B. Zingarelli, +21 Additional Authors Jan 2018

Minimum Quality Threshold In Pre-Clinical Sepsis Studies (Mqtipss): An International Expert Consensus Initiative For Improvement Of Animal Modeling In Sepsis, M. F. Osuchowski, A. Ayala, S. Bahrami, M. Bauer, M. Boros, J. M. Cavaillon, I. H. Chaudry, C. Deutschman, P. Wang, B. Zingarelli, +21 Additional Authors

Journal Articles

© 2018, The Author(s). Purpose: Pre-clinical animal studies precede the majority of clinical trials. While the clinical sepsis definitions and recommended treatments are regularly updated, a systematic review of pre-clinical models of sepsis has not been done and clear modeling guidelines are lacking. To address this deficit, a Wiggers-Bernard Conference on pre-clinical sepsis modeling was held in Vienna in May, 2017. The conference goal was to identify limitations of pre-clinical sepsis models and to propose a set of guidelines, defined as the “Minimum Quality Threshold in Pre-Clinical Sepsis Studies” (MQTiPSS), to enhance translational value of these models. Methods: 31 experts …

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Disparities In Utilization Of Social Determinants Of Health Referrals Among Children In Immigrant Families, O. T. Uwemedimo, H. May Jan 2018

Disparities In Utilization Of Social Determinants Of Health Referrals Among Children In Immigrant Families, O. T. Uwemedimo, H. May

Journal Articles

© 2018 Uwemedimo and May. Objective: Children in immigrant families (CIF) are at elevated risk of experiencing adverse social determinants of health (SDH), particularly material hardship, which contribute to disparate health outcomes. Previous studies have found that SDH screening programs integrated into pediatric practices have increased receipt of social service resources. Few studies have examined use of social services in these programs among ethnically-diverse patient populations and associations with caregiver immigrant status or limited English proficiency (LEP). Methods: Caregivers of children (<18 >years) were routinely screened in a practice-based, SDH screening program offering referral, assisted navigation and follow-up support. Information …

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