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Confirmation That Mat1a P.Ala259val Mutation Causes Autosomal Dominant Hypermethioninemia, M J. Muriello, S Viall, T Bottiglieri, K Cusmano-Ozog, C R. Ferreira Dec 2017

Confirmation That Mat1a P.Ala259val Mutation Causes Autosomal Dominant Hypermethioninemia, M J. Muriello, S Viall, T Bottiglieri, K Cusmano-Ozog, C R. Ferreira

Pediatrics Faculty Publications

Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p.Ala259Val substitution and provide evidence of autosomal dominant inheritance by showing both maternal inheritance of the mutation and concomitant hypermethioninemia. The p.Ala259Val mutation falls in the …


Plasma Fibroblast Growth Factor-21 Levels In Patients With Inborn Errors Of Metabolism, Brian Kirmse, Juan Cabrera-Luque, Omar Ayyub, Kristina Cusmano-Ozog, Kimberly A. Chapman, Marshall L. Summar Dec 2017

Plasma Fibroblast Growth Factor-21 Levels In Patients With Inborn Errors Of Metabolism, Brian Kirmse, Juan Cabrera-Luque, Omar Ayyub, Kristina Cusmano-Ozog, Kimberly A. Chapman, Marshall L. Summar

Pediatrics Faculty Publications

Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasma FGF21 by ELISA in patients with and without IEM. FGF21 levels were higher in patients with IEM compared to without IEM (370 pg/dL vs. 0–65 pg/dL). Further study of FGF21 as a biomarker in IEM is warranted.


Significant Correlation Between Regional Tissue Oxygen Saturation And Vital Signs Of Critically Ill Infants, Beri Massa-Buck, Virginia Amendola, Reagan Mccloskey, Khodayar Rais-Bahrami Dec 2017

Significant Correlation Between Regional Tissue Oxygen Saturation And Vital Signs Of Critically Ill Infants, Beri Massa-Buck, Virginia Amendola, Reagan Mccloskey, Khodayar Rais-Bahrami

Pediatrics Faculty Publications

Background: Near-infrared spectroscopy (NIRS) has been used to noninvasively measure specific tissue oxygen saturation (StO2) continuously. Cerebral autoregulation status can be derived from NIRS and arterial blood pressure. The relationship of both cerebral and somatic StO2, fractional tissue oxygen extraction (FTOE), and cerebro-splanchnic oxygenation ratio (CSOR) to measured vital signs parameters for NICU patients has not been well studied.


Objective: Determine if significant relationships between brain and somatic StO2, brain and somatic FTOE, and CSOR parameters to vital signs for neonates exist. Assess relationship between pressure passivity index, cerebral autoregulation and mean blood pressure (MBP).


Design/Methods: Neonates weighing <5 >kg, preferentially …


Non-Invasive Placental Perfusion Imaging In Pregnancies Complicated By Fetal Heart Disease Using Velocity-Selective Arterial Spin Labeled Mri., Zungho Zun, Greg Zaharchuk, Nickie N Andescavage, Mary T Donofrio, Catherine Limperopoulos Nov 2017

Non-Invasive Placental Perfusion Imaging In Pregnancies Complicated By Fetal Heart Disease Using Velocity-Selective Arterial Spin Labeled Mri., Zungho Zun, Greg Zaharchuk, Nickie N Andescavage, Mary T Donofrio, Catherine Limperopoulos

Pediatrics Faculty Publications

The placenta is a vital organ for fetal growth and development during pregnancy. Congenital heart disease (CHD) is a leading cause of morbidity and mortality in newborns. Despite the parallel development of the placenta and fetal heart early in pregnancy, very few studies suggested an association between placental dysfunction and fetal CHD. In this study, we report placental perfusion of healthy pregnancies and pregnancies complicated by fetal CHD measured using advanced fetal MRI techniques. We studied forty-eight pregnant women (31 healthy volunteers and 17 with fetal CHD) that underwent fetal MRI during their second or third trimester of pregnancy. Placental …


Association Of Teen Mothers' And Grandmothers' Parenting Capacities With Child Development: A Study Protocol., Damali Wilson, Deborah Gross, Stacy Hodgkinson, Kirby Deater-Deckard Nov 2017

Association Of Teen Mothers' And Grandmothers' Parenting Capacities With Child Development: A Study Protocol., Damali Wilson, Deborah Gross, Stacy Hodgkinson, Kirby Deater-Deckard

Pediatrics Faculty Publications

Children born to teen mothers may experience less responsive and supportive parenting and are at heightened risk for a range of social, developmental, and health issues. There is literature to support the positive impact of grandmothers on teen parents and their children. However, what if the teen's mother is also limited in her parenting capacities? How do parenting capacities across these two generations of mothers affect the developing child? In this ongoing study we are examining two important aspects of parenting capacities, attachment quality and executive functioning, in teen mothers (TM) and their biological, co- residing mothers or grandmothers (GM …


Effect Of Intranasally Delivered Rh-Vegf165 On Angiogenesis Following Cerebral Hypoxia-Ischemia In The Cerebral Cortex Of Newborn Piglets., Amit Jain, Panagiotis Kratimenos, Ioannis Koutroulis, Amishi Jain, Amulya Buddhavarapu, Jahan Ara Nov 2017

Effect Of Intranasally Delivered Rh-Vegf165 On Angiogenesis Following Cerebral Hypoxia-Ischemia In The Cerebral Cortex Of Newborn Piglets., Amit Jain, Panagiotis Kratimenos, Ioannis Koutroulis, Amishi Jain, Amulya Buddhavarapu, Jahan Ara

Pediatrics Faculty Publications

Background: Vascular endothelial growth factor (VEGF) stimulates vascular genesis and angiogenesis. Cerebral Hypoxia-Ischemia (HI) leads to the reduction of vasculature in the cerebral cortex of newborn piglets.

Objective: The present study tests the hypothesis that post-hypoxia intranasal administration of recombinant human VEGF165 (rh-VEGF165) for 3 days increases the vascular density in the cerebral cortex of newborn piglets without promoting neovascularization.

Design/Methods: Ventilated newborn piglets were divided into three groups (n = 5/group): normoxic (Nx), hypoxic-ischemic (HI), and HI treated with intranasal rh-VEGF165rh-VEGF165 (HI-VEGF). HI piglets were exposed to HI (0.05 FiO2) for 30 min. Recombinant h-VEGF165 (100 ng/kg) …


Clinical Risks And Healthcare Utilization Of Hematopoietic Cell Transplantation For Sickle Cell Disease In The Usa Using Merged Databases., Staci D Arnold, Ruta Brazauskas, Naya He, Yimei Li, Richard Aplenc, Zhezhen Jin, Allistair Abraham, +Several Additional Authors Nov 2017

Clinical Risks And Healthcare Utilization Of Hematopoietic Cell Transplantation For Sickle Cell Disease In The Usa Using Merged Databases., Staci D Arnold, Ruta Brazauskas, Naya He, Yimei Li, Richard Aplenc, Zhezhen Jin, Allistair Abraham, +Several Additional Authors

Pediatrics Faculty Publications

Advances in allogeneic hematopoietic cell transplantation for sickle cell disease have improved outcomes, but there is limited analysis of healthcare utilization in this setting. We hypothesized that, compared to late transplantation, early transplantation (at age <10 >years) improves outcomes and decreases healthcare utilization. We performed a retrospective study of children transplanted for sickle cell disease in the USA during 2000-2013 using two large databases. Univariate and Cox models were used to estimate associations of demographics, sickle cell disease severity, and transplant-related variables with mortality and chronic graft-versus-host disease, while Wilcoxon, Kruskal-Wallis, or linear trend tests were applied for the estimates of …


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 …


Virus-Specific T Cells For The Immunocompromised Patient, A. Houghtelin, Catherine M. Bollard Oct 2017

Virus-Specific T Cells For The Immunocompromised Patient, A. Houghtelin, Catherine M. Bollard

Pediatrics Faculty Publications

While progress has been made in the treatment of both hematologic cancers and solid tumors, chemorefractory or relapsed disease often portends a dismal prognosis, and salvage chemotherapy or radiation expose patients to intolerable toxicities and may not be effective. Hematopoietic stem cell transplant offers the promise of cure for many patients, and while mismatched, unrelated or haploidentical donors are increasingly available, the recipients are at higher risk of severe immunosuppression and immune dysregulation due to graft versus host disease. Viral infections remain a primary cause of severe morbidity and mortality in this patient population. Again, many therapeutic options for viral …


Predicting Unplanned Transfers To The Intensive Care Unit: A Machine Learning Approach Leveraging Diverse Clinical Elements, Ben Wellner, Joan Grand, Elizabeth Canzone, Matt Coarr, Patrick Brady, Nathan Dean, +Additional Authors Oct 2017

Predicting Unplanned Transfers To The Intensive Care Unit: A Machine Learning Approach Leveraging Diverse Clinical Elements, Ben Wellner, Joan Grand, Elizabeth Canzone, Matt Coarr, Patrick Brady, Nathan Dean, +Additional Authors

Pediatrics Faculty Publications

Background: Early warning scores aid in the detection of pediatric clinical deteriorations but include limited data inputs, rarely include data trends over time, and have limited validation.

Objective: Machine learning methods that make use of large numbers of predictor variables are now commonplace. This work examines how different types of predictor variables derived from the electronic health record affect the performance of predicting unplanned transfers to the intensive care unit (ICU) at three large children’s hospitals.

Methods: We trained separate models with data from three different institutions from 2011 through 2013 and evaluated models with 2014 data. Cases consisted of …


Randomised Controlled Trial Of Lactobacillus Rhamnosus (Lgg) Versus Placebo In Children Presenting To The Emergency Department With Acute Gastroenteritis: The Pecarn Probiotic Study Protocol., David Schnadower, Phillip I Tarr, Casper T Charles, Marc H Gorelick, Michael J Dean, Karen J O'Connell, Prashant Mahajan, Thomas H Chun, Seema R Bhatt, Cindy G Roskind, Elizabeth C Powell, Alexander J Rogers, Cheryl Vance, Robert E Sapien, Feng Gao, Stephen B Freedman Sep 2017

Randomised Controlled Trial Of Lactobacillus Rhamnosus (Lgg) Versus Placebo In Children Presenting To The Emergency Department With Acute Gastroenteritis: The Pecarn Probiotic Study Protocol., David Schnadower, Phillip I Tarr, Casper T Charles, Marc H Gorelick, Michael J Dean, Karen J O'Connell, Prashant Mahajan, Thomas H Chun, Seema R Bhatt, Cindy G Roskind, Elizabeth C Powell, Alexander J Rogers, Cheryl Vance, Robert E Sapien, Feng Gao, Stephen B Freedman

Pediatrics Faculty Publications

INTRODUCTION: Acute gastroenteritis (AGE) is a common and burdensome condition that affects millions of children worldwide each year. Currently available strategies are limited to symptomatic management, treatment and prevention of dehydration and infection control; no disease-modifying interventions exist. Probiotics, defined as live microorganisms beneficial to the host, have shown promise in improving AGE outcomes, but existing studies have sufficient limitations such that the use of probiotics cannot currently be recommended with confidence. Here we present the methods of a large, rigorous, randomised, double-blind placebo-controlled study to assess the effectiveness and side effect profile of Lactobacillus rhamnosus GG (LGG) (ATCC 53103) …


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 …


Abstinence-Only-Until-Marriage: An Updated Review Of U.S. Policies And Programs And Their Impact., John S Santelli, Leslie M Kantor, Stephanie A Grilo, Ilene S Speizer, Laura D Lindberg, Jennifer Heitel, Amy T Schalet, Maureen E Lyon, Amanda J Mason-Jones, Terry Mcgovern, Craig J Heck, Jennifer Rogers, Mary A Ott Sep 2017

Abstinence-Only-Until-Marriage: An Updated Review Of U.S. Policies And Programs And Their Impact., John S Santelli, Leslie M Kantor, Stephanie A Grilo, Ilene S Speizer, Laura D Lindberg, Jennifer Heitel, Amy T Schalet, Maureen E Lyon, Amanda J Mason-Jones, Terry Mcgovern, Craig J Heck, Jennifer Rogers, Mary A Ott

Pediatrics Faculty Publications

Adolescence is marked by the emergence of human sexuality, sexual identity, and the initiation of intimate relations; within this context, abstinence from sexual intercourse can be a healthy choice. However, programs that promote abstinence-only-until-marriage (AOUM) or sexual risk avoidance are scientifically and ethically problematic and—as such—have been widely rejected by medical and public health professionals. Although abstinence is theoretically effective, in actual practice, intentions to abstain from sexual activity often fail. Given a rising age at first marriage around the world, a rapidly declining percentage of young people remain abstinent until marriage. Promotion of AOUM policies by the U.S. government …


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, …


Emerging Antimicrobial Resistance In Early And Late-Onset Neonatal Sepsis, Lamiaa Mohnsen, Nermin Ramy, Dalia Saied, Dina Akmal, Niveen Salama, Mona Abdel Haleim, Hany Aly Jun 2017

Emerging Antimicrobial Resistance In Early And Late-Onset Neonatal Sepsis, Lamiaa Mohnsen, Nermin Ramy, Dalia Saied, Dina Akmal, Niveen Salama, Mona Abdel Haleim, Hany Aly

Pediatrics Faculty Publications

Background

Compared to developed countries, the use of antimicrobials in Egypt is less regulated and is available over the counter without the need for prescriptions. The impact of such policy on antimicrobial resistance has not been studied. This study aimed to determine the prevalence of early and late onset sepsis, and the frequency of antimicrobial resistance in a major referral neonatal intensive care unit (NICU).

Methods

The study included all neonates admitted to the NICU over a 12-month period. Prospectively collected clinical and laboratory data were retrieved, including blood cultures and endotracheal aspirate cultures if performed.

Results

A total of …


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.


Quality Improvement In Pediatric Head Trauma With Pecarn Rules Implementation As Computerized Decision Support, Shireen M. Atabaki, Brian Jacobs, Kathleen Jacobs, Samira Shahzeidi, Nia Heard-Garris, Meghan Chamberlain, Robert Grell, James M. Chamberlain May 2017

Quality Improvement In Pediatric Head Trauma With Pecarn Rules Implementation As Computerized Decision Support, Shireen M. Atabaki, Brian Jacobs, Kathleen Jacobs, Samira Shahzeidi, Nia Heard-Garris, Meghan Chamberlain, Robert Grell, James M. Chamberlain

Pediatrics Faculty Publications

Background: For the 1.4 million emergency department (ED) visits for traumatic brain injury (TBI) annually in the United States, computed tomography (CT) may be over utilized. The Pediatric Emergency Care Applied Research Network developed 2 prediction rules to identify children at very low risk of clinically important TBI. We implemented these prediction rules as decision support within our electronic health record (EHR) to reduce CT.

Objective: To test EHR decision support implementation in reducing CT rates for head trauma at 2 pediatric EDs.

Methods: We compared monthly CT rates 1 year before [preimplementation (PRE)] and 1 year after [postimplementation (POST)] …


A Normative Spatiotemporal Mri Atlas Of The Fetal Brain For Automatic Segmentation And Analysis Of Early Brain Growth., Ali Gholipour, Caitlin K Rollins, Clemente Velasco-Annis, Abdelhakim Ouaalam, Alireza Akhondi-Asl, Onur Afacan, Cynthia M Ortinau, Sean Clancy, Catherine Limperopoulos, Edward Yang, Judy A Estroff, Simon K Warfield Mar 2017

A Normative Spatiotemporal Mri Atlas Of The Fetal Brain For Automatic Segmentation And Analysis Of Early Brain Growth., Ali Gholipour, Caitlin K Rollins, Clemente Velasco-Annis, Abdelhakim Ouaalam, Alireza Akhondi-Asl, Onur Afacan, Cynthia M Ortinau, Sean Clancy, Catherine Limperopoulos, Edward Yang, Judy A Estroff, Simon K Warfield

Pediatrics Faculty Publications

Longitudinal characterization of early brain growth in-utero has been limited by a number of challenges in fetal imaging, the rapid change in size, shape and volume of the developing brain, and the consequent lack of suitable algorithms for fetal brain image analysis. There is a need for an improved digital brain atlas of the spatiotemporal maturation of the fetal brain extending over the key developmental periods. We have developed an algorithm for construction of an unbiased four-dimensional atlas of the developing fetal brain by integrating symmetric diffeomorphic deformable registration in space with kernel regression in age. We applied this new …


Usage Of 3d Models Of Tetralogy Of Fallot For Medical Education: Impact On Learning Congenital Heart Disease., Yue-Hin Loke, Ashraf S Harahsheh, Axel Krieger, Laura J Olivieri Mar 2017

Usage Of 3d Models Of Tetralogy Of Fallot For Medical Education: Impact On Learning Congenital Heart Disease., Yue-Hin Loke, Ashraf S Harahsheh, Axel Krieger, Laura J Olivieri

Pediatrics Faculty Publications

BACKGROUND: Congenital heart disease (CHD) is the most common human birth defect, and clinicians need to understand the anatomy to effectively care for patients with CHD. However, standard two-dimensional (2D) display methods do not adequately carry the critical spatial information to reflect CHD anatomy. Three-dimensional (3D) models may be useful in improving the understanding of CHD, without requiring a mastery of cardiac imaging. The study aimed to evaluate the impact of 3D models on how pediatric residents understand and learn about tetralogy of Fallot following a teaching session.

METHODS: Pediatric residents rotating through an inpatient Cardiology rotation were recruited. The …


Impact Of A National Guideline On Antibiotic Selection For Hospitalized Pneumonia., Derek J Williams, Matthew Hall, Jeffrey S Gerber, Mark I Neuman, Adam L Hersh, Thomas V Brogan, Kavita Parikh, Sanjay Mahant, Anne J Blaschke, Samir S Shah, Carlos G Grijalva Mar 2017

Impact Of A National Guideline On Antibiotic Selection For Hospitalized Pneumonia., Derek J Williams, Matthew Hall, Jeffrey S Gerber, Mark I Neuman, Adam L Hersh, Thomas V Brogan, Kavita Parikh, Sanjay Mahant, Anne J Blaschke, Samir S Shah, Carlos G Grijalva

Pediatrics Faculty Publications

BACKGROUND: We evaluated the impact of the 2011 Pediatric Infectious Diseases Society/Infectious Diseases Society of America pneumonia guideline and hospital-level implementation efforts on antibiotic prescribing for children hospitalized with pneumonia.

METHODS: We assessed inpatient antibiotic prescribing for pneumonia at 28 children's hospitals between August 2009 and March 2015. Each hospital was also surveyed regarding local implementation efforts targeting antibiotic prescribing and organizational readiness to adopt guideline recommendations. To estimate guideline impact, we used segmented linear regression to compare the proportion of children receiving penicillins in March 2015 with the expected proportion at this same time point had the guideline not …


Waiting 2 Minutes After Sucrose Administration—Unnecessary?, Naomi Meesters, Sinno Simons, Joost Van Rosmalen, Irwin Reiss, John Van Den Anker, Monique Van Dijk Mar 2017

Waiting 2 Minutes After Sucrose Administration—Unnecessary?, Naomi Meesters, Sinno Simons, Joost Van Rosmalen, Irwin Reiss, John Van Den Anker, Monique Van Dijk

Pediatrics Faculty Publications

Background Worldwide, oral sucrose is standard of care in many neonatal intensive care units to relieve procedural pain in neonates. This study aims to determine if time interval between sucrose administration and heelstick correlates with pain scores.

Methods Neonates were prospectively studied with variable time intervals and assessed with the Premature Infant Pain Profile-Revised (PIPP-R).

Results 150 neonates were included with a median gestational age of 30+6 (IQR 27+6–33+2) weeks and a median time interval of 72 (IQR 39–115) seconds between sucrose administration and heelstick. In multiple regression analysis, this time interval was not significantly …


Embryonic Transcription Factor Expression In Mice Predicts Medial Amygdala Neuronal Identity And Sex-Specific Responses To Innate Behavioral Cues., Julieta E Lischinsky, Katie Sokolowski, Li Peijun, Shigeyuki Esumi, Yasmin Kamal, Meredith Goodrich, Livio Oboti, Timothy R Hammond, Meera Krishnamoorthy, Daniel Feldman, Molly Huntsman, Judy Liu, Joshua G Corbin Feb 2017

Embryonic Transcription Factor Expression In Mice Predicts Medial Amygdala Neuronal Identity And Sex-Specific Responses To Innate Behavioral Cues., Julieta E Lischinsky, Katie Sokolowski, Li Peijun, Shigeyuki Esumi, Yasmin Kamal, Meredith Goodrich, Livio Oboti, Timothy R Hammond, Meera Krishnamoorthy, Daniel Feldman, Molly Huntsman, Judy Liu, Joshua G Corbin

Pediatrics Faculty Publications

The medial subnucleus of the amygdala (MeA) plays a central role in processing sensory cues required for innate behaviors. However, whether there is a link between developmental programs and the emergence of inborn behaviors remains unknown. Our previous studies revealed that the telencephalic preoptic area (POA) embryonic niche is a novel source of MeA destined progenitors. Here, we show that the POA is comprised of distinct progenitor pools complementarily marked by the transcription factors Dbx1 and Foxp2. As determined by molecular and electrophysiological criteria this embryonic parcellation predicts postnatal MeA inhibitory neuronal subtype identity. We further find that Dbx1-derived and …


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.


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 …


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 …