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Economic Evaluation Of Patient Navigation Programs In Colorectal Cancer Care, A Systematic Review., Chloé Gervès-Pinquié, Anne Girault, Serena Phillips, Sarah Raskin, Mandi Pratt-Chapman Jun 2018

Economic Evaluation Of Patient Navigation Programs In Colorectal Cancer Care, A Systematic Review., Chloé Gervès-Pinquié, Anne Girault, Serena Phillips, Sarah Raskin, Mandi Pratt-Chapman

Pediatrics Faculty Publications

Patient navigation has expanded as a promising approach to improve cancer care coordination and patient adherence. This paper addresses the need to identify the evidence on the economic impact of patient navigation in colorectal cancer, following the Health Economic Evaluation Publication Guidelines. Articles indexed in Medline, Cochrane, CINAHL, and Web of Science between January 2000 and March 2017 were analyzed. We conducted a systematic review of the literature using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The quality assessment of the included studies was based on the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist. Inclusion criteria …


Amygdala Corticofugal Input Shapes Mitral Cell Responses In The Accessory Olfactory Bulb, Livio Oboti, Eleonora Russo, Tuyen Tran, Daniel Durstewitz, Joshua G. Corbin May 2018

Amygdala Corticofugal Input Shapes Mitral Cell Responses In The Accessory Olfactory Bulb, Livio Oboti, Eleonora Russo, Tuyen Tran, Daniel Durstewitz, Joshua G. Corbin

Pediatrics Faculty Publications

Interconnections between the olfactory bulb and the amygdala are a major pathway for triggering strong behavioral responses to a variety of odorants. However, while this broad mapping has been established, the patterns of amygdala feedback connectivity and the influence on olfactory circuitry remain unknown. Here, using a combination of neuronal tracing approaches, we dissect the connectivity of a cortical amygdala [posteromedial cortical nucleus (PmCo)] feedback circuit innervating the mouse accessory olfactory bulb. Optogenetic activation of PmCo feedback mainly results in feedforward mitral cell (MC) inhibition through direct excitation of GABAergic granule cells. In addition, LED-driven activity of corticofugal afferents increases …


Communicating Effectively In Pediatric Cancer Care: Translating Evidence Into Practice., Lindsay J Blazin, Cherilyn Cecchini, Catherine Habashy, Erica C Kaye, Justin N Baker Mar 2018

Communicating Effectively In Pediatric Cancer Care: Translating Evidence Into Practice., Lindsay J Blazin, Cherilyn Cecchini, Catherine Habashy, Erica C Kaye, Justin N Baker

Pediatrics Faculty Publications

Effective communication is essential to the practice of pediatric oncology. Clear and empathic delivery of diagnostic and prognostic information positively impacts the ways in which patients and families cope. Honest, compassionate discussions regarding goals of care and hopes for patients approaching end of life can provide healing when other therapies have failed. Effective communication and the positive relationships it fosters also can provide comfort to families grieving the loss of a child. A robust body of evidence demonstrates the benefits of optimal communication for patients, families, and healthcare providers. This review aims to identify key communication skills that healthcare providers …


Risk Factors For Major Early Adverse Events Related To Cardiac Catheterization In Children And Young Adults With Pulmonary Hypertension: An Analysis Of Data From The Impact (Improving Adult And Congenital Treatment) Registry., Michael L O'Byrne, Kevin F Kennedy, Joshua P Kanter, John T Berger, Andrew C Glatz Feb 2018

Risk Factors For Major Early Adverse Events Related To Cardiac Catheterization In Children And Young Adults With Pulmonary Hypertension: An Analysis Of Data From The Impact (Improving Adult And Congenital Treatment) Registry., Michael L O'Byrne, Kevin F Kennedy, Joshua P Kanter, John T Berger, Andrew C Glatz

Pediatrics Faculty Publications

BACKGROUND: Cardiac catheterization is the gold standard for assessment and follow-up of patients with pulmonary hypertension (PH). To date, there are limited data about the factors that influence the risk of catastrophic adverse events after catheterization in this population.

METHODS AND RESULTS: A retrospective multicenter cohort study was performed to measure risk of catastrophic adverse outcomes after catheterization in children and young adults with PH and identify risk factors for these outcomes. All catheterizations in children and young adults, aged 0 to 21 years, with PH at hospitals submitting data to the IMPACT (Improving Adult and Congenital Treatment) registry between …


Impaired Type I Interferon Regulation In The Blood Transcriptome Of Recurrent Asthma Exacerbations., Jose L Gomez, Maria P Diaz, Gustavo Nino, Clemente J Britto Feb 2018

Impaired Type I Interferon Regulation In The Blood Transcriptome Of Recurrent Asthma Exacerbations., Jose L Gomez, Maria P Diaz, Gustavo Nino, Clemente J Britto

Pediatrics Faculty Publications

BACKGROUND: Asthma exacerbations are an important cause of morbidity in asthma. Respiratory infections are often involved in asthma exacerbations in both children and adults. Some individuals with asthma have increased susceptibility to viral infections and as a result increased rates of asthma exacerbations. We sought to identify a transcriptomic signature in the blood associated with asthma exacerbations triggered by respiratory infections (AETRI) and determine its association with increased risk for asthma exacerbations.

METHODS: We conducted a two-step study using publicly available, previously generated transcriptomic signatures in peripheral blood mononuclear cells (PBMCs) from asthmatics to identify novel markers of increased risk …


Aberrant Brain Functional Connectivity In Newborns With Congenital Heart Disease Before Cardiac Surgery, Josepheen De Asis-Cruz, Mary T. Donofrio, Gilbert Vezina, Catherine Limperopoulos Jan 2018

Aberrant Brain Functional Connectivity In Newborns With Congenital Heart Disease Before Cardiac Surgery, Josepheen De Asis-Cruz, Mary T. Donofrio, Gilbert Vezina, Catherine Limperopoulos

Pediatrics Faculty Publications

Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics. We report for the first time intact global network …


Comparison Between Different Strategies Of Rheumatic Heart Disease Echocardiographic Screening In Brazil: Data From The Provar (Rheumatic Valve Disease Screening Program) Study, B Nascimento, Craig A. Sable, M Nunes, A Diamantino, K Oliveira, Andrea Z. Beaton, +Several Additional Authors Jan 2018

Comparison Between Different Strategies Of Rheumatic Heart Disease Echocardiographic Screening In Brazil: Data From The Provar (Rheumatic Valve Disease Screening Program) Study, B Nascimento, Craig A. Sable, M Nunes, A Diamantino, K Oliveira, Andrea Z. Beaton, +Several Additional Authors

Pediatrics Faculty Publications

Background-—Considering the limited accuracy of clinical examination for early diagnosis of rheumatic heart disease (RHD), echocardiography has emerged as an important epidemiological tool. The ideal setting for screening is yet to be defined. We aimed to evaluate the prevalence and pattern of latent RHD in schoolchildren (aged 5–18 years) and to compare effectiveness of screening between public schools, private schools, and primary care centers in Minas Gerais, Brazil.

Methods and Results-—The PROVAR (Rheumatic Valve Disease Screening Program) study uses nonexperts and portable and handheld devices for RHD echocardiographic screening, with remote interpretation by telemedicine, according to the 2012 World Heart …


Treatment Challenges In An Atypical Presentation Of Tubulointerstitial Nephritis And Uveitis (Tinu), S Caplash, S Gangaputra, S Kodati, Shamir Tuchman, Hemalatha Srinivasalu, H Sen Jan 2018

Treatment Challenges In An Atypical Presentation Of Tubulointerstitial Nephritis And Uveitis (Tinu), S Caplash, S Gangaputra, S Kodati, Shamir Tuchman, Hemalatha Srinivasalu, H Sen

Pediatrics Faculty Publications

Purpose: To describe an atypical presentation of Tubulointerstitial Nephritis and Uveitis (TINU), with challenges in treatment course. Observations: A 12-year-old Hispanic female presented to the National Eye Institute's Uveitis clinic with bilateral blurred vision, red eyes and photophobia, not responsive to topical steroids. On exam, she had bilateral severe panuveitis with areas of subretinal fluid. During her evaluation, she was noted to have elevated serum creatinine. A kidney biopsy confirmed the presence of severe tubulointerstitial nephritis and interstitial fibrosis. She was treated with oral steroids with excellent resolution of symptoms and subretinal fluid. She continued to have anterior segment flares …


The Neurodevelopmental Perspective Of Surgical Necrotizing Enterocolitis: The Role Of The Gut-Brain Axis., Chariton Moschopoulos, Panagiotis Kratimenos, Ioannis Koutroulis, Bhairav V Shah, Anja Mowes, Vineet Bhandari Jan 2018

The Neurodevelopmental Perspective Of Surgical Necrotizing Enterocolitis: The Role Of The Gut-Brain Axis., Chariton Moschopoulos, Panagiotis Kratimenos, Ioannis Koutroulis, Bhairav V Shah, Anja Mowes, Vineet Bhandari

Pediatrics Faculty Publications

This state-of-the-art review article aims to highlight the most recent evidence about the therapeutic options of surgical necrotizing enterocolitis, focusing on the molecular basis of the gut-brain axis in relevance to the neurodevelopmental outcomes of primary peritoneal drainage and primary laparotomy. Current evidence favors primary laparotomy over primary peritoneal drainage as regards neurodevelopment in the surgical treatment of necrotizing enterocolitis. The added exposure to inhalational anesthesia in infants undergoing primary laparotomy is an additional confounding variable but requires further study. The concept of the gut-brain axis suggests that bowel injury initiates systemic inflammation potentially affecting the developing central nervous system. …


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 …


Effect Of Src Kinase Inhibition On Cytochrome C, Smac/Diablo And Apoptosis Inducing Factor (Aif) Following Cerebral Hypoxia-Ischemia In Newborn Piglets., Panagiotis Kratimenos, Ioannis Koutroulis, Beamon Agarwal, Stamatios Theocharis, Maria Delivoria-Papadopoulos Nov 2017

Effect Of Src Kinase Inhibition On Cytochrome C, Smac/Diablo And Apoptosis Inducing Factor (Aif) Following Cerebral Hypoxia-Ischemia In Newborn Piglets., Panagiotis Kratimenos, Ioannis Koutroulis, Beamon Agarwal, Stamatios Theocharis, Maria Delivoria-Papadopoulos

Pediatrics Faculty Publications

We have previously shown that cerebral Hypoxia-ischemia (HI) results in activation of Src kinase in the newborn piglet brain. We investigated the regulatory mechanism by which the pre-apoptotic proteins translocate from mitochondria to the cytosol during HI through the Src kinase. Newborn piglets were divided into 3 groups (n = 5/group): normoxic (Nx), HI and HI pre-treated with Src kinase inhibitor PP2 (PP2 + HI). Brain tissue HI was verified by neuropathological analysis and by Adenosine Triphosphate (ATP) and Phosphocreatine (PCr) levels. We used western blots, immunohistochemistry, H&E and biochemical enzyme assays to determine the role of Src kinase on …


Cost-Effectiveness Analysis Of Neonatal Screening Of Critical Congenital Heart Defects In China., Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori Nov 2017

Cost-Effectiveness Analysis Of Neonatal Screening Of Critical Congenital Heart Defects In China., Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori

Pediatrics Faculty Publications

Background: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the costeffectiveness of CCHD screening in China.

Methods and Findings: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as …


Myoblasts And Macrophages Are Required For Therapeutic Morpholino Antisense Oligonucleotide Delivery To Dystrophic Muscle., James S Novak, Marshall W Hogarth, Jessica F Boehler, Marie Nearing, Maria C Vila, Raul Heredia, Alyson A Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P Hoffman, Jyoti K Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A Partridge Oct 2017

Myoblasts And Macrophages Are Required For Therapeutic Morpholino Antisense Oligonucleotide Delivery To Dystrophic Muscle., James S Novak, Marshall W Hogarth, Jessica F Boehler, Marie Nearing, Maria C Vila, Raul Heredia, Alyson A Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P Hoffman, Jyoti K Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A Partridge

Pediatrics Faculty Publications

Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), employing morpholino antisense oligonucleotides (PMO-AO) to exclude disruptive exons from the mutant DMD transcript and elicit production of truncated dystrophin protein. Clinical trials for PMO show variable and sporadic dystrophin rescue. Here, we show that robust PMO uptake and efficient production of dystrophin following PMO administration coincide with areas of myofiber regeneration and inflammation. PMO localization is sustained in inflammatory foci where it enters macrophages, actively differentiating myoblasts and newly forming myotubes. We conclude that efficient PMO delivery into muscle requires two concomitant events: first, accumulation and retention …


Plasmodium Falciparum Epcr-Binding Pfemp1 Expression Increases With Malaria Disease Severity And Is Elevated In Retinopathy Negative Cerebral Malaria., Estela Shabani, Benjamin Hanisch, Robert O Opoka, Thomas Lavstsen, Chandy C John Oct 2017

Plasmodium Falciparum Epcr-Binding Pfemp1 Expression Increases With Malaria Disease Severity And Is Elevated In Retinopathy Negative Cerebral Malaria., Estela Shabani, Benjamin Hanisch, Robert O Opoka, Thomas Lavstsen, Chandy C John

Pediatrics Faculty Publications

Background

Expression of group A and the A-like subset of group B Plasmodium falciparumerythrocyte membrane protein 1 (PfEMP1) is associated with severe malaria (SM). The diversity of var sequences combined with the challenges of distinct classification of patient pathologies has made studying the role of distinct PfEMP1 variants on malaria disease severity challenging. The application of retinopathy in the recent years has provided a further method to clinically evaluate children with cerebral malaria (CM). The question of whether children with clinical CM but no retinopathy represent a completely different disease process or a subgroup within the spectrum of CM …


Radiation-Free Cmr Diagnostic Heart Catheterization In Children., Kanishka Ratnayaka, Joshua P Kanter, Anthony Z Faranesh, Elena K Grant, Laura J Olivieri, Russell R Cross, Ileen F Cronin, Karin S Hamann, Adrienne E Campbell-Washburn, Kendall J O'Brien, Toby Rogers, Michael S Hansen, Robert J Lederman Sep 2017

Radiation-Free Cmr Diagnostic Heart Catheterization In Children., Kanishka Ratnayaka, Joshua P Kanter, Anthony Z Faranesh, Elena K Grant, Laura J Olivieri, Russell R Cross, Ileen F Cronin, Karin S Hamann, Adrienne E Campbell-Washburn, Kendall J O'Brien, Toby Rogers, Michael S Hansen, Robert J Lederman

Pediatrics Faculty Publications

BACKGROUND: Children with heart disease may require repeated X-Ray cardiac catheterization procedures, are more radiosensitive, and more likely to survive to experience oncologic risks of medical radiation. Cardiovascular magnetic resonance (CMR) is radiation-free and offers information about structure, function, and perfusion but not hemodynamics. We intend to perform complete radiation-free diagnostic right heart catheterization entirely using CMR fluoroscopy guidance in an unselected cohort of pediatric patients; we report the feasibility and safety.

METHODS: We performed 50 CMR fluoroscopy guided comprehensive transfemoral right heart catheterizations in 39 pediatric (12.7 ± 4.7 years) subjects referred for clinically indicated cardiac catheterization. CMR guided …


Vorinostat Renders The Replication-Competent Latent Reservoir Of Human Immunodeficiency Virus (Hiv) Vulnerable To Clearance By Cd8 T Cells., Julia A Sung, Katherine Sholtis, Jennifer Kirchherr, Joann D Kuruc, Cynthia L Gay, Jeffrey L Nordstrom, Catherine M Bollard, Nancie M Archin, David M Margolis Jul 2017

Vorinostat Renders The Replication-Competent Latent Reservoir Of Human Immunodeficiency Virus (Hiv) Vulnerable To Clearance By Cd8 T Cells., Julia A Sung, Katherine Sholtis, Jennifer Kirchherr, Joann D Kuruc, Cynthia L Gay, Jeffrey L Nordstrom, Catherine M Bollard, Nancie M Archin, David M Margolis

Pediatrics Faculty Publications

Latently human immunodeficiency virus (HIV)-infected cells are transcriptionally quiescent and invisible to clearance by the immune system. To demonstrate that the latency reversing agent vorinostat (VOR) induces a window of vulnerability in the latent HIV reservoir, defined as the triggering of viral antigen production sufficient in quantity and duration to allow for recognition and clearance of persisting infection, we developed a latency clearance assay (LCA). The LCA is a quantitative viral outgrowth assay (QVOA) that includes the addition of immune effectors capable of clearing cells expressing viral antigen. Here we show a reduction in the recovery of replication-competent virus from …


Optimizing Linkage To Care And Initiation And Retention On Treatment Of Adolescents With Newly Diagnosed Hiv Infection., Eva Caroline Ruria, Rose Masaba, Judith Kose, Godfrey Woelk, Eliud Mwangi, Lucy Matu, Hillary Ng'eno, Beatrice Bikeri, Natella Rakhmanina Jul 2017

Optimizing Linkage To Care And Initiation And Retention On Treatment Of Adolescents With Newly Diagnosed Hiv Infection., Eva Caroline Ruria, Rose Masaba, Judith Kose, Godfrey Woelk, Eliud Mwangi, Lucy Matu, Hillary Ng'eno, Beatrice Bikeri, Natella Rakhmanina

Pediatrics Faculty Publications

Objective: Unsuccessful linkage to care and treatment increases adolescent HIV-related morbidity and mortality. This study evaluated the effect of a novel adolescent and youth Red Carpet Program (RCP) on the timing and outcomes of linkage to care.

Design: A prepost implementation evaluation of the pilot RCP program.

Settings: Healthcare facilities (HCFs) and schools in Homa Bay County, Kenya.

Study participants: HIV-infected adolescents (15–19 years) and youth (20–21 years).

Interventions: RCP provided fast-track peer-navigated services, peer counseling, and psychosocial support at HCFs and schools in six Homa Bay subcounties in 2016. RCP training and sensitization was implemented in 50 HCFs and …


Validating Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han Jun 2017

Validating Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han

Pediatrics Faculty Publications

Genomic sequencing efforts can implicate large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system to validate candidate gene association with pathology is therefore useful. We present such a system employing Drosophila to validate candidate congenital heart disease (CHD) genes. The protocols exploit comprehensive libraries of UAS-GeneX-RNAi fly strains that when crossed into a 4×Hand-Gal4 genetic background afford highly efficient cardiac-specific knockdown of endogenous fly orthologs of human genes. A panel of quantitative assays evaluates phenotypic severity across multiple cardiac parameters. These include developmental lethality, larva and adult heart morphology, …


Determining The Longitudinal Validity And Meaningful Differences In Hrql Of The Pedsql™ Sickle Cell Disease Module., Julie A Panepinto, J Paul Scott, Oluwakemi Badaki-Makun, Deepika S Darbari, Corrie E Chumpitazi, Gladstone E Airewele, +Several Additional Authors Jun 2017

Determining The Longitudinal Validity And Meaningful Differences In Hrql Of The Pedsql™ Sickle Cell Disease Module., Julie A Panepinto, J Paul Scott, Oluwakemi Badaki-Makun, Deepika S Darbari, Corrie E Chumpitazi, Gladstone E Airewele, +Several Additional Authors

Pediatrics Faculty Publications

BACKGROUND: Detecting change in health status over time and ascertaining meaningful changes are critical elements when using health-related quality of life (HRQL) instruments to measure patient-centered outcomes. The PedsQL™ Sickle Cell Disease module, a disease specific HRQL instrument, has previously been shown to be valid and reliable. Our objectives were to determine the longitudinal validity of the PedsQL™ Sickle Cell Disease module and the change in HRQL that is meaningful to patients.

METHODS: An ancillary study was conducted utilizing a multi-center prospective trial design. Children ages 4-21 years with sickle cell disease admitted to the hospital for an acute painful …


Complete Congenital Heart Block: A Case Of Multilevel Block., Ian W Hovis, David N Schidlow, Jeffrey P Moak Jun 2017

Complete Congenital Heart Block: A Case Of Multilevel Block., Ian W Hovis, David N Schidlow, Jeffrey P Moak

Pediatrics Faculty Publications

No abstract provided.


Ux007 For The Treatment Of Long Chain-Fatty Acid Oxidation Disorders: Safety And Efficacy In Children And Adults Following 24weeks Of Treatment., J Vockley, B Burton, G T Berry, N Longo, J Phillips, Pranoot Tanpaiboon, +Several Additional Authors Feb 2017

Ux007 For The Treatment Of Long Chain-Fatty Acid Oxidation Disorders: Safety And Efficacy In Children And Adults Following 24weeks Of Treatment., J Vockley, B Burton, G T Berry, N Longo, J Phillips, Pranoot Tanpaiboon, +Several Additional Authors

Pediatrics Faculty Publications

BACKGROUND: Long-chain fatty acid oxidation disorders (LC-FAOD) lead to accumulation of high concentrations of potentially toxic fatty acid intermediates. Newborn screening and early intervention have reduced mortality, but most patients continue to experience frequent hospitalizations and significant morbidity despite treatment. The deficient energy state can cause serious liver, muscle, and heart disease, and may be associated with an increased risk of sudden death. Triheptanoin is a medium odd-chain fatty acid. Anaplerotic metabolites of triheptanoin have the potential to replace deficient tricarboxylic acid (TCA) cycle intermediates, resulting in net glucose production as a novel energy source for the treatment of LC-FAOD. …


Junctional Ectopic Tachycardia Secondary To Myocarditis Associated With Sudden Cardiac Arrest, Michael E. A. Cunningham, Robin W. Doroshow, Laura Oliveri, Jeffrey P. Moak Feb 2017

Junctional Ectopic Tachycardia Secondary To Myocarditis Associated With Sudden Cardiac Arrest, Michael E. A. Cunningham, Robin W. Doroshow, Laura Oliveri, Jeffrey P. Moak

Pediatrics Faculty Publications

No abstract provided.


Pcsk9 Genetic Variants And Risk Of Type 2 Diabetes: A Mendelian Randomisation Study, A. Schmidt, D. Swerdlow, M. Holmes, R. Patel, Z. Fairhurst-Hunter, Cara L. Carty, +Several Additional Authors Feb 2017

Pcsk9 Genetic Variants And Risk Of Type 2 Diabetes: A Mendelian Randomisation Study, A. Schmidt, D. Swerdlow, M. Holmes, R. Patel, Z. Fairhurst-Hunter, Cara L. Carty, +Several Additional Authors

Pediatrics Faculty Publications

BACKGROUND:

Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk.

METHODS:

In this mendelian randomisation study, we used data from cohort studies, randomised controlled trials, case control studies, and …


High Throughput In Vivo Functional Validation Of Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Margaret Nettleton, Adam Richman, Zhe Han Jan 2017

High Throughput In Vivo Functional Validation Of Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Margaret Nettleton, Adam Richman, Zhe Han

Pediatrics Faculty Publications

Genomic sequencing has implicated large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system is needed to validate gene associations with pathology. We developed a Drosophila-based functional system to screen candidate disease genes identified from Congenital Heart Disease (CHD) patients. 134 genes were tested in the Drosophila heart using RNAi-based gene silencing. Quantitative analyses of multiple cardiac phenotypes demonstrated essential structural, functional, and developmental roles for more than 70 genes, including a subgroup encoding histone H3K4 modifying proteins. We also demonstrated the use of Drosophila to evaluate cardiac phenotypes resulting …


Rheumatic Heart Disease In Uganda: Predictors Of Morbidity And Mortality One Year After Presentation., Emmy Okello, Chris T Longenecker, Andrea Beaton, Moses R Kamya, Peter Lwabi Jan 2017

Rheumatic Heart Disease In Uganda: Predictors Of Morbidity And Mortality One Year After Presentation., Emmy Okello, Chris T Longenecker, Andrea Beaton, Moses R Kamya, Peter Lwabi

Pediatrics Faculty Publications

BACKGROUND: Rheumatic heart disease (RHD), the long-term consequence of rheumatic fever, accounts for most cardiovascular morbidity and mortality among young adults in developing countries. However, data on contemporary outcomes from resource constrained areas are limited.

METHODS: A prospective cohort study of participants aged 5-60 years with established RHD was conducted in Kampala, Uganda, in which clinical exam, echocardiography, electrocardiography (ECG), and laboratory evaluation were done every 3 months and every 4-week benzathine penicillin prophylaxis was prescribed. Participants were followed up for 12 months and outcomes and predictors of morbidity and mortality were assessed using Kaplan Meier curves and Cox proportional …


Aapt Diagnostic Criteria For Chronic Sickle Cell Disease Pain., Carlton Dampier, Tonya M Palermo, Deepika S Darbari, Kathryn Hassell, Wally Smith, William Zempsky Jan 2017

Aapt Diagnostic Criteria For Chronic Sickle Cell Disease Pain., Carlton Dampier, Tonya M Palermo, Deepika S Darbari, Kathryn Hassell, Wally Smith, William Zempsky

Pediatrics Faculty Publications

Pain in sickle cell disease (SCD) is associated with increased morbidity, mortality, and high health care costs. Although episodic acute pain is the hallmark of this disorder, there is an increasing awareness that chronic pain is part of the pain experience of many older adolescents and adults. A common set of criteria for classifying chronic pain associated with SCD would enhance SCD pain research efforts in epidemiology, pain mechanisms, and clinical trials of pain management interventions, and ultimately improve clinical assessment and management. As part of the collaborative effort between the Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities …


Toward A Rapid Production Of Multivirus-Specific T Cells Targeting Bkv, Adenovirus, Cmv, And Ebv From Umbilical Cord Blood, Hema Dave, Min Luo, J.W. Blaney, Shabnum Patel, Cecilia Barese, Conrad Russell Cruz, Elizabeth J. Shpall, Catherine M. Bollard, Patrick J. Hanley Jan 2017

Toward A Rapid Production Of Multivirus-Specific T Cells Targeting Bkv, Adenovirus, Cmv, And Ebv From Umbilical Cord Blood, Hema Dave, Min Luo, J.W. Blaney, Shabnum Patel, Cecilia Barese, Conrad Russell Cruz, Elizabeth J. Shpall, Catherine M. Bollard, Patrick J. Hanley

Pediatrics Faculty Publications

Umbilical cord blood (CB) has emerged as an effective alternative donor source for hematopoietic stem cell transplantation. Despite this success, the prolonged duration of immune suppression following CB transplantation and the naiveté of CB T cells leave patients susceptible to viral infections. Adoptive transfer of ex vivo-expanded virus-specific T cells from CB is both feasible and safe. However, the manufacturing process of these cells is complicated, lengthy, and labor-intensive. We have now developed a simplified method to manufacture a single culture of polyclonal multivirus-specific cytotoxic T cells in less than 30 days. It eliminates the need for a live virus …


Distinct Neural Bases Of Disruptive Behavior And Autism Symptom Severity In Boys With Autism Spectrum Disorder., Y.J. Daniel Yang, Denis G Sukhodolsky, Jiedi Lei, Eran Dayan, Kevin A. Pelphrey, Pamela Ventola Jan 2017

Distinct Neural Bases Of Disruptive Behavior And Autism Symptom Severity In Boys With Autism Spectrum Disorder., Y.J. Daniel Yang, Denis G Sukhodolsky, Jiedi Lei, Eran Dayan, Kevin A. Pelphrey, Pamela Ventola

Pediatrics Faculty Publications

BACKGROUND: Disruptive behavior in autism spectrum disorder (ASD) is an important clinical problem, but its neural basis remains poorly understood. The current research aims to better understand the neural underpinnings of disruptive behavior in ASD, while addressing whether the neural basis is shared with or separable from that of core ASD symptoms.

METHODS: Participants consisted of 48 male children and adolescents: 31 ASD (7 had high disruptive behavior) and 17 typically developing (TD) controls, well-matched on sex, age, and IQ. For ASD participants, autism symptom severity, disruptive behavior, anxiety symptoms, and ADHD symptoms were measured. All participants were scanned while …


Pediatric Cardiovascular Care In Uganda: Current Status, Challenges, And Opportunities For The Future., Twalib Olega Aliku, Sulaiman Lubega, Judith Namuyonga, Tom Mwambu, Michael Oketcho, John O Omagino, Craig Sable, Peter Lwabi Jan 2017

Pediatric Cardiovascular Care In Uganda: Current Status, Challenges, And Opportunities For The Future., Twalib Olega Aliku, Sulaiman Lubega, Judith Namuyonga, Tom Mwambu, Michael Oketcho, John O Omagino, Craig Sable, Peter Lwabi

Pediatrics Faculty Publications

In many developing countries, concerted action against common childhood infectious diseases has resulted in remarkable reduction in infant and under-five mortality. As a result, pediatric cardiovascular diseases are emerging as a major contributor to childhood morbidity and mortality. Pediatric cardiac surgery and cardiac catheterization interventions are available in only a few of Sub-Saharan African countries. In Uganda, open heart surgeries (OHSs) and interventional procedures for pediatric cardiovascular disease are only possible at the Uganda Heart Institute (UHI), having been started with the help of expatriate teams from the years 2007 and 2012, respectively. Thereafter, independent OHS and cardiac catheterization have …


Nasopharyngeal Microbiome Diversity Changes Over Time In Children With Asthma, Marcos Pérez-Losada, Lamia Alamri, Keith Crandall, Robert J. Freishtat Jan 2017

Nasopharyngeal Microbiome Diversity Changes Over Time In Children With Asthma, Marcos Pérez-Losada, Lamia Alamri, Keith Crandall, Robert J. Freishtat

Pediatrics Faculty Publications

Background

The nasopharynx is a reservoir for pathogens associated with respiratory illnesses such as asthma. Next-generation sequencing (NGS) has been used to characterize the nasopharyngeal microbiome of infants and adults during health and disease; less is known, however, about the composition and temporal dynamics (i.e., longitudinal variation) of microbiotas from children and adolescents. Here we use NGS technology to characterize the nasopharyngeal microbiomes of asthmatic children and adolescents (6 to 18 years) and determine their stability over time.

Methods

Two nasopharyngeal washes collected 5.5 to 6.5 months apart were taken from 40 children and adolescents with asthma living in the …