Pediatrics Commons^™

Technical Performance Score Is Associated With Outcomes After The Norwood Procedure., Meena Nathan, Lynn A. Sleeper, Richard G. Ohye, Peter C. Frommelt, Christopher A. Caldarone, James S. Tweddell, Minmin Lu, Gail D. Pearson, J William Gaynor, Christian Pizarro, Ismee A. Williams, Steven D. Colan, Carolyn Dunbar-Masterson, Peter J. Gruber, Kevin Hill, Jennifer Hirsch-Romano, Jeffrey P. Jacobs, Jonathan R. Kaltman, S Ram Kumar, David Morales, Scott M. Bradley, Kirk Kanter, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: The technical performance score (TPS) has been reported in a single center study to predict the outcomes after congenital cardiac surgery. We sought to determine the association of the TPS with outcomes in patients undergoing the Norwood procedure in the Single Ventricle Reconstruction trial.

Methods: We calculated the TPS (class 1, optimal; class 2, adequate; class 3, inadequate) according to the predischarge echocardiograms analyzed in a core laboratory and unplanned reinterventions that occurred before discharge from the Norwood hospitalization. Multivariable regression examined the association of the TPS with interval to first extubation, Norwood length of stay, death or transplantation, …

Provider Cost Analysis Supports Results-Based Contracting Out Of Maternal And Newborn Health Services: An Evidence-Based Policy Perspective, Peter Hatcher, Shiraz Shaikh, Hassan Fazli, Shehla Zaidi, Atif Riaz

Community Health Sciences

Background

There is dearth of evidence on provider cost of contracted out services particularly for Maternal and Newborn Health (MNH). The evidence base is weak for policy makers to estimate resources required for scaling up contracting. This paper ascertains provider unit costs and expenditure distribution at contracted out government primary health centers to inform the development of optimal resource envelopes for contracting out MNH services.

Methods

This is a case study of provider costs of MNH services at two government Rural Health Centers (RHCs) contracted out to a non-governmental organization in Pakistan. It reports on four selected Basic Emergency Obstetrical …

Sofas And Infant Mortality., Lauren R. Rechtman, Jeffrey D. Colvin, Peter S. Blair, Rachel Y. Moon

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Sleeping on sofas increases the risk of sudden infant death syndrome and other sleep-related deaths. We sought to describe factors associated with infant deaths on sofas.

METHODS: We analyzed data for infant deaths on sofas from 24 states in 2004 to 2012 in the National Center for the Review and Prevention of Child Deaths Case Reporting System database. Demographic and environmental data for deaths on sofas were compared with data for sleep-related infant deaths in other locations, using bivariate and multivariable, multinomial logistic regression analyses.

RESULTS: A total of 1024 deaths on sofas made up 12.9% of sleep-related infant …

Teaching Health Advocacy To Medical Students: A Comparison Study., Julia Belkowitz, Lee M Sanders, Chi Zhang, Gauri Agarwal, Daniel Lichtstein, Alex J Mechaber, Esther K Chung

Department of Pediatrics Faculty Papers

CONTEXT: Many encourage service learning and health advocacy training in medical student education, but related evaluation is limited.

OBJECTIVES: To assess (1) impact of a required community health advocacy training for medical students on student attitudes, knowledge, and skills; (2) student characteristics associated with higher advocacy knowledge and skills; and (3) perspectives of community-based organizations (CBOs).

DESIGN: Cross-sectional surveys.

SETTING: University of Miami Miller School of Medicine (UMMSM) Regional Medical Campus and main campus.

PARTICIPANTS: Medical students at both UMMSM campuses.

INTERVENTION: Required community health advocacy training for first- and second-year students including classroom experiences and hands-on project in partnership …

Vascular Ehlers-Danlos Syndrome: A Rare Disorder Presenting With Focal Convulsions, Shakeel Ahmed, Syed Rehan Ali, Naila Nadeem, Muhammad Hamid

Department of Paediatrics and Child Health

Vascular Ehlers-Danlos Syndrome (VEDS), previously called Ehlers-Danlos syndrome type-IV, is a heterogeneous group of heritable connective tissue disorders characterized by thin, translucent skin, easy bruising, arterial, intestinal, and/or uterine fragility. There is large vessel involvement that leads to arterial rupture often preceded by aneurysm, arteriovenous fistulae, or dissection. Noninvasive imaging studies such as CT angiography and MR angiography are preferred as diagnostic studies for this condition. We are reporting a 4 years old girl who was presented with right sided unilateral convulsions and hypertension. CT angiogram showed stenosis with post-stenotic dilatation of coeliac and superior mesenteric arteries. There were extensive …

Rectal Polyp With Atypical Lymphoid Infiltrate; Rectal Lymphoma Or Rectal Tonsil, Dalya El Tawil Md, Adam R. Paul Do

Department of Pediatrics

No abstract provided.

Tps Mutational Status Is A Potential Marker For Risk Stratification In Wilms Tumour With Diffuse Anaplasia, Mariana Maschietto, Richard D. Williams, Tasnim Chagtai, Sergey D. Popov, Neil J. Sebire, Gordan Vujanic, Elizabeth Perlman, James R. Anderson, Paul Grundy, Jeffrey S. Dome, Kathy Pritchard-Jones

Pediatrics Faculty Publications

Purpose

The presence of diffuse anaplasia in Wilms tumours (DAWT) is associated with TP53 mutations and poor outcome. As patients receive intensified treatment, we sought to identify whetherTP53 mutational status confers additional prognostic information.

Patients and Methods

We studied 40 patients with DAWT with anaplasia in the tissue from which DNA was extracted and analysed for TP53 mutations and 17p loss. The majority of cases were profiled by copy number (n = 32) and gene expression (n = 36) arrays. TP53 mutational status was correlated with patient event-free and overall survival, genomic copy number instability and gene expression profiling. …

Neonatal Nmda Receptor Blockade Disrupts Spike Timing And Glutamatergic Synapses In Fast Spiking Interneurons In A Nmda Receptor Hypofunction Model Of Schizophrenia, Kevin S. Jones, Joshua G. Corbin, Molly M. Huntsman

Pediatrics Faculty Publications

The dysfunction of parvalbumin-positive, fast-spiking interneurons (FSI) is considered a primary contributor to the pathophysiology of schizophrenia (SZ), but deficits in FSI physiology have not been explicitly characterized. We show for the first time, that a widely-employed model of schizophrenia minimizes first spike latency and increases GluN2B-mediated current in neocortical FSIs. The reduction in FSI first-spike latency coincides with reduced expression of the Kv1.1 potassium channel subunit which provides a biophysical explanation for the abnormal spiking behavior. Similarly, the increase in NMDA current coincides with enhanced expression of the GluN2B NMDA receptor subunit, specifically in FSIs. In this study mice …

Medical Education Practice-Based Research Networks: Facilitating Collaborative Research, Alan Schwartz, Robin Young, Patricia J. Hicks, Ann Burke, Hilary M. Haftel, R. Mcgregor, L. Degnon, Carol Carraccio

Pediatrics Faculty Publications

Background: Research networks formalize and institutionalize multi-site collaborations by establishing an infrastructure that enables network members to participate in research, propose new studies, and exploit study data to move the field forward. Although practice-based clinical research networks are now widespread, medical education research networks are rapidly emerging.Aims: In this article, we offer a definition of the medical education practice-based research network, a brief description of networks in existence in July 2014 and their features, and a more detailed case study of the emergence and early growth of one such network, the Association of Pediatric Program Directors Longitudinal Educational Assessment Research …

Impact Of Pre-Stage Ii Hemodynamics And Pulmonary Artery Anatomy On 12-Month Outcomes In The Pediatric Heart Network Single Ventricle Reconstruction Trial., Ranjit Aiyagari, John F. Rhodes, Peter Shrader, Wolfgang A. Radtke, Varsha M. Bandisode, Lisa Bergersen, Matthew J. Gillespie, Robert G. Gray, Lin T. Guey, Kevin D. Hill, Russel Hirsch, Dennis W. Kim, Kyong-Jin Lee, Andrew N. Pelech, Jeremy Ringewald, Cheryl Takao, Julie A. Vincent, Richard G. Ohye, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To compare the interstage cardiac catheterization hemodynamic and angiographic findings between shunt types for the Pediatric Heart Network Single Ventricle Reconstruction trial. The trial, which randomized subjects to a modified Blalock-Taussig shunt (MBTS) or right ventricle-to-pulmonary artery shunt (RVPAS) for the Norwood procedure, demonstrated the RVPAS was associated with a smaller pulmonary artery diameter but superior 12-month transplant-free survival.

METHODS: We analyzed the pre-stage II catheterization data for the trial subjects. The hemodynamic variables and shunt and pulmonary angiographic data were compared between shunt types; their association with 12-month transplant-free survival was also evaluated.

RESULTS: Of 549 randomized subjects, …

Intellectual And Developmental Disability: Healthcare Financing, David A. Ervin, Joav Merrick

Pediatrics Faculty Publications

The World Health Organization (WHO) estimates global spending on healthcare at $6.5 trillion, approximately 10.5% of the world’s gross domestic product. The United States’ (US) share of that spending is $2.6 trillion, essentially quadrupling since 1980. The 2010 United States Patient Protection and Affordable Care Act (PPACA), also known as Obamacare, has stimulated extensive debate over the way in which healthcare is financed, and whether or not the costs of healthcare are sustainable. Among publicly funded healthcare in the US, Medicaid and Medicare are primary sources of funding. In federal fiscal year 2012, Medicaid spending on acute health exceeded $275.4 …

A Delphi Process To Optimize Quality And Performance Of Drug Evaluation In Neonates, Frederic Legrand, Rym Boulkedid, Valery Elie, Stephanie Leroux, Elizabeth Valls, Adolfo Valls-I-Soler, John N. Van Den Anker

Pediatrics Faculty Publications

Background

Neonatal trials remain difficult to conduct for several reasons: in particular the need for study sites to have an existing infrastructure in place, with trained investigators and validated quality procedures to ensure good clinical, laboratory practices and a respect for high ethical standards. The objective of this work was to identify the major criteria considered necessary for selecting neonatal intensive care units that are able to perform drug evaluations competently.

Methodology and Main Findings

This Delphi process was conducted with an international multidisciplinary panel of 25 experts from 13 countries, selected to be part of two committees (a scientific …

Lin28a Expression Reduces Sickling Of Cultured Human Erythrocytes, Jaira F. De Vasconcellos, Ross M. Fasano, Y. Terry Lee, Megha Kaushal, Colleen Burns, Emily Riehm Meier, Molly Anderson, Antoinette Rabel, Raul Braylan, David F. Stroncek, Jeffery L. Miller

Pediatrics Faculty Publications

Induction of fetal hemoglobin (HbF) has therapeutic importance for patients with sickle cell disease (SCD) and the beta-thalassemias. It was recently reported that increased expression of LIN28 proteins or decreased expression of its target let-7 miRNAs enhances HbF levels in cultured primary human erythroblasts from adult healthy donors. Here LIN28A effects were studied further using erythrocytes cultured from peripheral blood progenitor cells of pediatric subjects with SCD. Transgenic expression of LIN28A was accomplished by lentiviral transduction in CD34(+) sickle cells cultivated ex vivo in serum-free medium. LIN28A over-expression (LIN28A-OE) increased HbF, reduced beta (sickle)-globin, and strongly suppressed …

Epidemiology Of Patients Presenting To The Emergency Centre Of Princess Marina Hospital In Gaborone, Botswana, Amit Chandra, Paul C. Mullan, Ari Ho-Foster, Antanoid Langeveldt, Ngaire Caruso, Joseph Motsumi, Andrew Kestler

Pediatrics Faculty Publications

No abstract provided.

Factors Associated With Neurodevelopment For Children With Single Ventricle Lesions., Caren S. Goldberg, Minmin Lu, Lynn A. Sleeper, William T. Mahle, J William Gaynor, Ismee A. Williams, Kathleen A. Mussatto, Richard G. Ohye, Eric M. Graham, Deborah U. Frank, Jeffrey P. Jacobs, Catherine Krawczeski, Linda Lambert, Alan Lewis, Victoria L. Pemberton, Renee Sananes, Erica Sood, Stephanie B. Wechsler, David C. Bellinger, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To measure neurodevelopment at 3 years of age in children with single right-ventricle anomalies and to assess its relationship to Norwood shunt type, neurodevelopment at 14 months of age, and patient and medical factors.

STUDY DESIGN: All subjects in the Single Ventricle Reconstruction Trial who were alive without cardiac transplant were eligible for inclusion. The Ages and Stages Questionnaire (ASQ, n = 203) and other measures of behavior and quality of life were completed at age 3 years. Medical history, including measures of growth, feeding, and complications, was assessed through annual review of the records and phone interviews. The …

Role Of Astrocyte Network In Edema After Juvenile Traumatic Brain Injury, Andrew Minoru Fukuda

Loma Linda University Electronic Theses, Dissertations & Projects

Juvenile traumatic brain injury (jTBI) is the leading cause of death and disability in young children and adolescents. Despite its lasting detrimental effects on the developing brain, no pharmacological treatment exists. One of the pathological hallmarks of jTBI is edema. Astrocytes play a key role in the edema process, and have been hypothesized that numerous astrocyte networks allow communication and propagation of edema and secondary injury spread. Two key astrocyte proteins are hypothesized to have a central role in the edema process: Aquaporin 4 (AQP4) and Connexin 43 (Cx43). AQP4 is expressed extensively in astrocyte endfeet, which surrounds the blood …

A Double-Blind Randomized Trial Of Fish Oil To Lower Triglycerides And Improve Cardiometabolic Risk In Adolescents., Samuel S. Gidding, Carol Prospero, Jobayer Hossain, Frances Zappalla, Prabhakaran Babu Balagopal, Bonita Falkner, Peter Kwiterovich

Department of Pediatrics Faculty Papers

OBJECTIVES: To determine the efficacy of 4 g/day fish oil to lower triglycerides and impact lipoprotein particles, inflammation, insulin resistance, coagulation, and thrombosis.

STUDY DESIGN: Participants (n = 42, age 14 ± 2 years) with hypertriglyceridemia and low-density lipoprotein (LDL) cholesterol/dL were enrolled in a randomized, double-blind, crossover trial comparing 4 g of fish oil daily with placebo. Treatment interval was 8 weeks with a 4-week washout. Lipid profile, lipoprotein particle distribution and size, glucose, insulin, high-sensitivity C-reactive protein, interleukin-6, fibrinogen, plasminogen activator inhibitor-1, and thrombin generation were measured.

RESULTS: Baseline lipid profile was total cholesterol 194 (5.4) mg/dL (mean …

Pheochromocytoma In A Twelve-Year-Old Girl With Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome, Daryl Graham, Megan Gooch, Zhan Ye, Edward Richer, Aftab S. Chishti, Elizabeth Reilly, John D’Orazio

Pediatrics Faculty Publications

A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an abdominal CT scan confirmed the presence of a pheochromocytoma. The patient was found to have a mutation in the succinyl dehydrogenase B (SDHB) gene, which is causative for SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Herein, we describe her presentation and medical management and discuss the clinical implications of SDHB deficiency.

Somatic Intronic Microsatellite Loci Differentiate Glioblastoma From Lower-Grade Gliomas, Enusha Karunasena, Lauren J. Mciver, Brian R. Rood, Xiaowei Wu, Hongxiao Zhu, Jasmin H. Bavarva, Harold R. Garner

Pediatrics Faculty Publications

Genomic studies of glioma sub-types have amassed new disease specific mutations, yet these only partially explain how mutations are linked to predisposition or progression. We hypothesized that microsatellite variation could expand the understanding of glioma etiology. Furthermore, germline markers for gliomas are typically undetectable; therefore we also hypothesize that the predictability of cancer-associated microsatellite loci in germline DNA may support the current hypothesis of a glioma cell of origin.

In this study, “normal” germline exome sequenced DNA from the 1000 Genomes Project (n=390) were compared with exome sequences from germlines of subjects with WHO grade II and III lower-grade glioma …

Subacute Sclerosing Panencephalitis: Clinical And Demographic Characteristics, Arshad Rafique, Nida Amjad, Prem Chand, Syed Sohail Zahoor Zaidi, Muhammad Suleman Rana, Khalid Ahmed, Shahnaz Ibrahim

Department of Paediatrics and Child Health

Objective: To determine the clinical and demographic characteristics of children diagnosed with Subacute sclerosing panencephalitis (SSPE).

Study Design: Case series.

Place and Duration of Study: The Aga Khan University Hospital, Karachi, from January 2000 to June 2012.

Methodology: A retrospective analysis was done, regarding medical charts of 43 children under the age of 16 years with a discharge diagnosis of SSPE. Demographic and clinical characteristics were recorded. Results were expressed as percentages.

Results: Most of the 43 patients were male (72%). The average age at presentation was 8.7 years with average duration of symptoms being 100.6 days. History of …

Sleep Environment Risks For Younger And Older Infants., Jeffrey D. Colvin, Vicki Collie-Akers, Christy Schunn, Rachel Y. Moon

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Sudden infant death syndrome and other sleep-related causes of infant mortality have several known risk factors. Less is known about the association of those risk factors at different times during infancy. Our objective was to determine any associations between risk factors for sleep-related deaths at different ages.

METHODS: A cross-sectional study of sleep-related infant deaths from 24 states during 2004-2012 contained in the National Center for the Review and Prevention of Child Deaths Case Reporting System, a database of death reports from state child death review teams. The main exposure was age, divided into younger (0-3 months) and older …

Frequency Of Cardiorenal Syndrome Type-I In Hospitalized Children With Acute Heart Failure In A Tertiary-Care Hospital, Mehjabeen Zaidi, Arshalooz Jamila Rehman, Anwarul Haque, Saleem Akhtar, Prem Kumar Maheshwar

Department of Paediatrics and Child Health

Objective: To determine the frequency of cardiorenal syndrome in hospitalized children with acute heart failure.

Study Design: Descriptive study.

Place and Duration of Study: Paediatric Intensive Care Unit, The Aga Khan University Hospital, Karachi, from December 2010 to December 2011.

Methodology: Sixty eight (68) children with acute heart failure fulfilling the selection criteria were evaluated for worsening of renal function (WRF). Serum creatinine was done at baseline and repeated at 72 hours to see the worsening of renal function. Estimated serum creatinine clearance was calculated by Schwartz formula.

Results: Mean age of patients was 43.6 ± 55.2 months. There were …

Empyema Thoracis In Children: Clinical Presentation, Management And Complications, Ali Faisal Saleem, Abdul Sattar Shaikh, Reema Sajjad Khan, Fazal Khan, Ahmad Vaqas Faruque, Muhammad Arif Mateen Khan

Department of Paediatrics and Child Health

Objective: To determine the etiology, clinical manifestation, management (medical and surgical) and complications of children with empyema thoracis in a tertiary care hospital from Karachi, Pakistan.

Study Design: Descriptive, analytical study.

Place and Duration of Study: Department of Surgery, The Aga Khan University Hospital, Karachi, from January 1996 to December 2010.

Methodology: Medical records of admitted children aged > a month to 15 years with discharge diagnosis of empyema thoracis and data was collected on demographic features, clinical manifestation, management and complications. Children managed medically were compared with those managed surgically by using interquartile range and median comparison. Mann-Whitney U test …

Newborn Care: What We Can Learn From The Kangaroo Mother, Donald E. Greydanus, Joav Merrick

Pediatrics Faculty Publications

No abstract provided.

Sleep Disturbance, Depression And Pain In Adults With Sickle Cell Disease, Gwenyth R. Wallen, Caterina P. Minniti, Michael Krumlauf, Ellen Eckes, Darlene Allen, Anna Oguhebe, Cassie Seamon, Deepika Darbari

Pediatrics Faculty Publications

Background

Sleep disturbance and depression are commonly encountered in primary care. In sickle cell disease, depression is associated with pain, poor treatment compliance, and lower quality of life. The prevalence of sleep disturbance and its effect upon quality of life in adults with sickle cell disease is unknown. The goal of this study was to determine the prevalence of sleep disturbance and if it is associated with pain and depression in sickle cell disease.

Methods

Three hundred twenty eight adults with sickle cell disease enrolled on the Bethesda Sickle Cell Cohort Study were assessed using the Pittsburgh Sleep Quality Index …

Healthcare For Persons With Intellectual And Developmental Disability In The Community, David A. Ervin, Brian Hennen, Joav Merrick, Mohammed Morad

Pediatrics Faculty Publications

INTRODUCTION: While there has been impressive progress in creating and improving community healthcare delivery systems that support people with intellectual and developmental disabilities (IDD), there is much more that can and should be done.

METHODS: This paper offers a review of healthcare delivery concepts on which new models are being developed, while also establishing an historical context. We review the need for creating fully integrated models of healthcare, and at the same time offer practical considerations that range from specific healthcare delivery system components to the need to expand our approach to training healthcare providers. The models and delivery systems, …

Primary Care: Mental And Behavioral Health And Persons With Intellectual And Developmental Disabilities, David A. Ervin, Ashley Williams, Joav Merrick

Pediatrics Faculty Publications

INTRODUCTION: There are multiple ways to address the mental and behavioral health needs of people with intellectual and developmental disabilities (IDD).

METHOD: In this paper, we do not argue for a particular approach or set of approaches, but instead review the benefits of integrating mental and behavioral health supports with primary healthcare based primarily on our experience in and understanding of healthcare systems in the United States. It is estimated that between 35 and 40% of people with IDD also live with psychiatric disorders. NADD, an association for persons with developmental disabilities and mental health needs in the US holds …

Frequency Of Retinopathy Of Prematurity In Premature Neonates With A Birth Weight Below 1500 Grams And A Gestational Age Less Than 32 Weeks: A Study From A Tertiary Care Hospital In A Lower-Middle Income Country, Arjumand Sohaila, Shiyam Sunder Tikmani, Iqtidar Ahmed Khan, Huba Atiq, Ali Syed Muhammad Akhtar, Prem Kumar, Kishwer Kumar

Department of Emergency Medicine

Introduction: Retinopathy of prematurity (ROP) is a treatable cause of blindness in neonates. In Pakistan, ROP is often not recognized early because screening and treatment programs are not yet in place in most neonatal units, even in tertiary care hospitals. It is hoped that this report will help inform medical professionals of the magnitude of the problem and help to design appropriate management strategies.

Objectives: The aim was to determine the frequency of ROP in premature and very low birth weight (BW) neonates (BW(GA)weeks).

Study Design: Cross-sectional study.

Study Setting : Neonatal intensive care unit (NICU) of a tertiary care …

Safety Of Celecoxib And Nonselective Nonsteroidal Anti-Inflammatory Drugs In Juvenile Idiopathic Arthritis: Results Of The Phase 4 Registry, Rachel E. Sobel, Daniel J. Lovell, Hermine I. Brunner, Jennifer E. Weiss, Paula W. Morris, Beth S. Gottlieb, Elizabeth C. Chalom, Lawrence K. Jung, Karen B. Onel, Lisa Petiniot, Donald P. Goldsmith

Pediatrics Faculty Publications

Background

This study aimed to assess long-term safety and developmental data on juvenile idiopathic arthritis (JIA) patients treated in routine clinical practice with celecoxib or nonselective nonsteroidal anti-inflammatory drugs (nsNSAIDs).

Methods

Children aged ≥2 to <18 years with rheumatoid-factor–positive or –negative polyarthritis, persistent or extended oligoarthritis, or systemic arthritis were enrolled into this prospective, observational, multicenter standard-of-care registry. Eligible patients were newly or recently prescribed (≤6 months) an nsNSAID or celecoxib. Enrolled patients were followed to the end of the study, whether they remained on the original NSAID, switched, or discontinued therapy altogether. All adverse events (AEs) regardless of severity were captured in the database.

Results

A total of 274 patients (nsNSAID, n = 219; celecoxib, n = 55) were observed for 410 patient-years of observation. Naproxen, meloxicam, and nabumetone were the most frequently used nsNSAIDs. At baseline, the celecoxib group was older, had a numerically longer median time since diagnosis, and a numerically higher proportion of patients with a history of gastrointestinal-related NSAID intolerance. AEs reported were those frequently …

Analysis Of Neonatal Brain Lacking Atrx Or Mecp2 Reveals Changes In Nucleosome Density, Ctcf Binding And Chromatin Looping, Kristin D Kernohan, Douglas Vernimmen, Gregory B Gloor, Nathalie G. Bérubé

Paediatrics Publications

ATRX and MeCP2 belong to an expanding group of chromatin-associated proteins implicated in human neurodevelopmental disorders, although their gene-regulatory activities are not fully resolved. Loss of ATRX prevents full repression of an imprinted gene network in the postnatal brain and in this study we address the mechanistic aspects of this regulation. We show that ATRX binds many imprinted domains individually but that transient co-localization between imprinted domains in the nuclei of neurons does not require ATRX. We demonstrate that MeCP2 is required for ATRX recruitment and that deficiency of either ATRX or MeCP2 causes decreased frequency of long-range chromatin interactions …