Medicine and Health Sciences Commons^™

Congenital Left Ventricle-To-Coronary Sinus Fistula: A Rare Isolated Anomaly Of The Coronary Sinus., Doaa M. Aly, Nikki M. Singh, Sanket Shah

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the coronary sinus (CS) are very uncommon. They can occur either in isolation or in association with other congenital heart defects. 1 Among those anomalies, congenital fistulae connecting the left ventricle and the CS represent a very rare entity. Most reported cases of CS fistula generally originate in the right coronary artery or left anterior descending coronary artery system. 2 We describe an extremely rare case of an isolated high-pressure congenital left ventricle–to–CS fistula as an anomaly of the CS in an otherwise asymptomatic child. The initial clinical presentation and follow-up, imaging studies, and plan for management …

The Effects Of C5-Substituted 2,4-Diaminoquinazolines On Selected Transcript Expression In Spinal Muscular Atrophy Cells., Cinsley Gentillon, Andrew J Connell, Ryan W Kirk, Matthew E R Butchbach

Department of Pediatrics Faculty Papers

C5-substituted 2,4-diaminoquinazolines (2,4-DAQs) ameliorate disease severity in SMA mice. It is uncertain, however, that these compounds increase SMN protein levels in vivo even though they were identified as activators of the SMN2 promoter. These compounds also regulate the expression of other transcripts in neuroblastoma cells. In this study, we investigate the mechanism by which the 2,4-DAQs regulate the expression of SMN2 as well as other targets. D156844, D158872, D157161 and D157495 (RG3039) increased SMN2 promoter-driven reporter gene activity by at least 3-fold in NSC-34 cells. These compounds, however, did not significantly increase SMN2 mRNA levels in type II SMA fibroblasts …

Deviations From The Expected Relationship Between Serum Fgf23 And Other Markers In Children With Ckd: A Cross-Sectional Study., Daisy Liu, Ana Catalina Alvarez-Elías, Brooke Wile, Vladimir Belostotsky, Guido Filler

Paediatrics Publications

BACKGROUND: High levels of fibroblast growth factor-23 (FGF23) are associated with mortality. In chronic kidney disease (CKD), FGF23 levels rise as renal function declines. We analyzed the contribution of laboratory values to the variance of FGF23 levels in relationship to a curve of expected FGF23 levels for a given GFR.

METHODS: Following approval by the research ethics boards, we measured FGF23, CysC eGFR, creatinine, urea, albumin, calcium, phosphate, vitamin D metabolites, PTH, alkaline phosphatase, CRP, and venous gases in 141 pediatric CKD patients (45, 37, 32, 13 and 14 CKD stages I, II, III, IV, and V, respectively). Data were …

Impaired Right Ventricular Contractile Function In Childhood Obesity And Its Association With Right And Left Ventricular Changes: A Cine Dense Cardiac Magnetic Resonance Study, Linyuan Jing, Arichanah Pulenthiran, Christopher D. Nevius, Abba Mejia-Spiegeler, Jonathan D. Suever, Gregory J. Wehner, H. Lester Kirchner, Christopher M. Haggerty, Brandon K. Fornwalt

Biomedical Engineering Faculty Publications

Background: Pediatric obesity is a growing public health problem, which is associated with increased risk of cardiovascular disease and premature death. Left ventricular (LV) remodeling (increased myocardial mass and thickness) and contractile dysfunction (impaired longitudinal strain) have been documented in obese children, but little attention has been paid to the right ventricle (RV). We hypothesized that obese/overweight children would have evidence of RV remodeling and contractile dysfunction.

Methods: One hundred and three children, ages 8–18 years, were prospectively recruited and underwent cardiovascular magnetic resonance (CMR), including both standard cine imaging and displacement encoding with stimulated echoes (DENSE) imaging, which allowed …

Development Of Bone Targeting Drugs., Molly Stapleton, Kazuki Sawamoto, Carlos J. Alméciga-Díaz, William G. Mackenzie, Robert W. Mason, Tadao Orii, Shunji Tomatsu

Department of Pediatrics Faculty Papers

The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage region. Targeting drugs to the site of action can not only increase efficacy but also reduce toxicity. Bone-targeting drugs are designed with either of two general targeting moieties, aimed at the entire skeletal system or a specific cell type. Most bone-targeting drugs utilize an affinity to hydroxyapatite, a major component of the bone matrix that includes a high concentration of positively-charged Ca(2+). …

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, …

Treatment Pathway Of Bone Sarcoma In Children, Adolescents, And Young Adults, Damon R. Reed, Masanori Hayashi, Lars M. Wagner, Odion Binitie, Diana A. Steppan, Andrew S. Brohl, Eric T. Shinohara, Julia A. Bridge, David M. Loeb, Scott C. Borinstein, Michael S. Isakoff

Pediatrics Faculty Publications

When pediatric, adolescent, and young adult patients present with a bone sarcoma, treatment decisions, especially after relapse, are complex and require a multidisciplinary approach. This review presents scenarios commonly encountered in the therapy of bone sarcomas with the goal of objectively presenting a consensus, multidisciplinary management approach. Little variation was found in the authors' group with respect to local control or systemic therapy. Clinical trials were universally prioritized in all settings. Decisions regarding relapse therapies in the absence of a clinical trial had very minor variations initially, but a consensus was reached after a literature review and discussion. This review …

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

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 …

Case-Control Vaccine Effectiveness Studies: Data Collection, Analysis And Reporting Results, Jennifer R. Verani, Abdullah H. Baqui, Claire V. Broome, Thomas Cherian, Cheryl Cohen, Jennifer L. Farrar, Daniel R. Feikin, Michelle J. Groome, Rana A. Hajjeh, Anita K. M. Zaidi

Department of Paediatrics and Child Health

The case-control methodology is frequently used to evaluate vaccine effectiveness post-licensure. The results of such studies provide important insight into the level of protection afforded by vaccines in a 'real world' context, and are commonly used to guide vaccine policy decisions. However, the potential for bias and confounding are important limitations to this method, and the results of a poorly conducted or incorrectly interpreted case-control study can mislead policies. In 2012, a group of experts met to review recent experience with case-control studies evaluating vaccine effectiveness; we summarize the recommendations of that group regarding best practices for data collection, analysis, …

The Use Of Sensory Spaces In Schools, Syeda S. Mahmood, Erin E. Mallekoote, Ashley Rister

Pediatrics

Objective: This mixed methods continuing line of inquiry was conducted in order to identify how occupational therapists (OTs) report that sensory spaces are being used in Michigan public school settings. This includes who uses the spaces, what purpose the space serves, and the training that individuals utilizing the spaces have received.

Methods: A link to a survey, which was adapted from Abbot, Wills, and Hanert (2015), was posted on the Michigan Alliance of School Physical and Occupational Therapists’ (MASPOT) listServ and Michigan Occupational Therapy Association’s (MiOTA) facebook page in June of 2016 in order to recruit participations. The …

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

Pediatrics Faculty Publications

No abstract provided.

Eight-Year-Old Girl With Hepatomegaly, Becky Biqi Chen, Chitra Prasad, Joanna C Walsh, Dhandapani Ashok

Paediatrics Publications

CASE DESCRIPTION

An 8-year-old girl was referred for abdominal pain and elevated liver transaminases. She was previously healthy and was not on any medications. There was no prior history of blood transfusions, toxin exposures or parenteral nutrition. Her parents were nonconsanguineous, and of French and Irish descent. Her family has no history of liver diseases but maternal and paternal grandparents have elevated cholesterol. Her weight was 25.5 kg (27th percentile), height 127 cm (21st percentile) and body mass index (BMI) was 15.8 kg/m2 (42nd percentile). On abdominal examination, both liver and spleen were enlarged. There was no scleral icterus or …

Inhibition Of Mt1-Mmp Proteolytic Function And Erk1/2 Signalling Influences Cell Migration And Invasion Through Changes In Mmp-2 And Mmp-9 Levels, Mario A. Cepeda, Caitlin L. Evered, Jacob J.H. Pelling, Sashko Damjanovski

Paediatrics Publications

Membrane type-1 matrix metalloproteinase (MT1-MMP, MMP-14) is a unique protease that cleaves extracellular proteins, activates proMMPs, and initiates intracellular signalling. MCF-7 cells are non-invasive and deficient in MT1-MMP, MMP-2, and MMP-9 expression. We created an MCF-7 cell line (C2) that stably produces active MT1-MMP and demonstrated increased ERK1/2 phosphorylation. MAPK inhibition in this cell line showed an inverse relationship in MMP-2 and MMP-9 transcripts where levels of these genes increased and decreased, respectively. Using invasive MDA-MB 231 cells that endogenously produce MT1-MMP and have naturally high pERK levels, we demonstrated the identical inverse relationship between MMP-2 and -9 transcript and …

The Impact Of Youth Alert! Intervention In Reducing Violence In Schools, Douglas Wain, Hatim A. Omar, Said Shahtahmasebi

Pediatrics Faculty Publications

Youth violence has long-term adverse effects on both victims and their communities. Most interventional strategies have little or no impact on reducing violence because they target supporting the victims whilst ignoring a social environment that continually facilitates exposure to violence through social and entertainment media. This paper provides some supporting evidence that interventional strategies that target changing attitudes and behaviour at a very young age through education are likely to positively change behaviour.

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Diagnosis And Management In Young People: A Primer, P Rowe, R Underhill, K Friedman, A Gurwitt, Marvin Medow, M Schwartz, N Speight, Julian Stewart, R Vallings, K Rowe

NYMC Faculty Publications

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex disease that affects children and adolescents as well as adults. The etiology has not been established. While many pediatricians and other health-care providers are aware of ME/CFS, they often lack essential knowledge that is necessary for diagnosis and treatment. Many young patients experience symptoms for years before receiving a diagnosis. This primer, written by the International Writing Group for Pediatric ME/CFS, provides information necessary to understand, diagnose, and manage the symptoms of ME/CFS in children and adolescents. ME/CFS is characterized by overwhelming fatigue with a substantial loss of physical and mental stamina. …

The Quest For Sustained Multiple Morbidity Reduction In Very Low-Birth-Weight Infants: The Antifragility Project., Joseph Kaempf, N M Schmidt, S Rogers, C Novack, M Friant, L Wang, N Tipping

Articles, Abstracts, and Reports

OBJECTIVE: Can a comprehensive, explicitly directive evidence-based guideline for all therapies that might affect the major morbidities of very low-birth-weight (VLBW) infants help a neonatal intensive care unit (NICU) further improve generally favorable morbidity rates? Can Antifragility principles of provider adaptive growth from stressors, enhanced infant risk assessment and adherence to effective therapies minimize unproven treatments and reduce all morbidities?

STUDY DESIGN: Prospectively planned observational trial in VLBW infants: control group born October 2011 to September 2013 and study group October 2013 to September 2015. Multi-disciplinary evidence-based review assigned all NICU treatments into one of four distinct categories: (1) always …

Determinants And Impact Of Giardia Infection In The First 2 Years Of Life In The Mal-Ed Birth Cohort, Elizabeth T. Rogawski, Luther A. Bartelt, James A. Platts-Mills, Jessica C. Seidman, Amidou Samie, Alexandre Havt, Sudhir Babji, Shahida Qureshi, Sadia Shakoor, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Giardia are among the most common enteropathogens detected in children in low-resource settings. We describe here the epidemiology of infection with Giardia in the first 2 years of life in the Etiology, Risk Factors, and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development Project (MAL-ED), a multisite birth-cohort study.
Methods: From 2089 children, 34916 stool samples collected during monthly surveillance and episodes of diarrhea were tested for Giardia using an enzyme immunoassay. We quantified the risk of Giardia detection, identified risk factors, and assessed the associations with micronutrients, markers of gut inflammation and …

Comprehensive Review Of The Evidence Regarding The Effectiveness Of Community-Based Primary Health Care In Improving Maternal, Neonatal And Child Health: 8. Summary And Recommendations Of The Expert Panel, Robert E. Black, Carl E. Taylor, Shobha Arole, Abhay Bang, Zulfiqar Ahmed Bhutta, A Mushtaque R. Chowdhury, Betty R. Kirkwood, Nazo Kureshy, Claudio F. Lanata, James F. Phillips

Department of Paediatrics and Child Health

Background: The contributions that community-based primary health care (CBPHC) and engaging with communities as valued partners can make to the improvement of maternal, neonatal and child health (MNCH) is not widely appreciated. This unfortunate reality is one of the reasons why so few priority countries failed to achieve the health-related Millennium Development Goals by 2015. This article provides a summary of a series of articles about the effectiveness of CBPHC in improving MNCH and offers recommendations from an Expert Panel for strengthening CBPHC that were formulated in 2008 and have been updated on the basis of more recent evidence.
Methods: …

Prioritizing Research For Integrated Implementation Of Early Childhood Development And Maternal, Newborn, Child And Adolescent Health And Nutrition Platforms, Renee Sharma, Michelle F. Gaffey, Harold Alderman, Diego G. Bassani, Kimber Bogard, Gary L. Darmstadt, Jai K. Das, Joseph E De Graft–Johnson, Jena D. Hamadani, Susan Horton

Department of Paediatrics and Child Health

Background: Existing health and nutrition services present potential platforms for scaling up delivery of early childhood development (ECD) interventions within sensitive windows across the life course, especially in the first 1000 days from conception to age 2 years. However, there is insufficient knowledge on how to optimize implementation for such strategies in an integrated manner. In light of this knowledge gap, we aimed to systematically identify a set of integrated implementation research priorities for health, nutrition and early child development within the 2015 to 2030 timeframe of the Sustainable Development Goals (SDGs).
Methods: We applied the Child Health and Nutrition …

Setting Health Research Priorities Using The Chnri Method: Vii. A Review Of The First 50 Applications Of The Chnri Method, Igor Rudan, Sachiyo Yoshida, Kit Yee Chan, Devi Sridhar, Kerri Wazny, Harish Nair, Aziz Sheikh, Mark Tomlinson, Joy E. Lawn, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Several recent reviews of the methods used to set research priorities have identified the CHNRI method (acronym derived from the "Child Health and Nutrition Research Initiative") as an approach that clearly became popular and widely used over the past decade. In this paper we review the first 50 examples of application of the CHNRI method, published between 2007 and 2016, and summarize the most important messages that emerged from those experiences.
Methods: We conducted a literature review to identify the first 50 examples of application of the CHNRI method in chronological order. We searched Google Scholar, PubMed and so-called …

Psychometric Properties Of The Ndetei–Othieno–Kathuku (Nok) Scale: A Mental Health Assessment Tool For An African Setting, Christy A. Denckla, David M. Ndetei, Victoria N. Mutiso, Christine W. Musyimi, Abednego M. Musau, Eric S. Nandoya, Kelly K. Anderson, Snezana Milanovic, David Henderson, Kwame Mckenzie

Paediatrics Publications

Background: Research suggests that psychiatric conditions in children and adolescents are highly debilitating, with sparse resources for assessment and treatment in low- and middle-income countries (LMICs). Objectives: The primary aim of this study was to evaluate the reliability, validity, and latent factor structure of an ethnographically-grounded assessment instrument for detecting common mental health complaints among rural Kenyan children and adolescents. Methods: The Ndetei–Othieno–Kathuku Scale (NOK) was delivered to 2 282 children aged 10 to 18 years old. Exploratory factor analysis identified four latent factors. This structure was confirmed in subsequent confirmatory factor analyses. External validity was explored by investigating associations …

Dance & Down Syndrome: Parental Perceptions On Dance And Movement-Based Interventions, Ami A. Parke, Cara J. Murray, Rebecca D. Need, Kathryn Edick

Pediatrics

This qualitative phenomenological study was designed to identify parent or guardian perceptions on the benefits of dance and movement-based interventions for their child who has Down syndrome. Individuals with Down syndrome face limitations in social-emotional skills, physical skills, and life skills, and research on the benefits of dance and movement-based interventions demonstrated some evidence of improvements in these skills. Researchers utilized a parent focus group in order to gain insight into how dance impacts their children with Down syndrome. A number of themes emerged from the data analysis process including improved movement, psychological well-being, and routine and retention. The theme …

Bendablesound: An Elastic Multisensory Surface Using Touch-Based Interactions To Assist Children With Severe Autism During Music Therapy, Franceli L. Cibrian, Oscar Peña, Deysi Ortega, Monica Tentori

Engineering Faculty Articles and Research

Neurological Music Therapy uses live music to improve the sensorimotor regulation of children with severe autism. However, they often lack musical training and their impairments limit their interactions with musical instruments. In this paper, we present our co-design work that led to the BendableSound prototype: an elastic multisensory surface encouraging users to practice coordination movements when touching a fabric to play sounds. We present the results of a formative study conducted with 18 teachers showing BendableSound was perceived as “usable” and “attractive”. Then, we present a deployment study with 24 children with severe autism showing BendableSound is “easy to use” …

The Clinical Impact Of Copy Number Variants In Inherited Bone Marrow Failure Syndromes, Nicolas Waespe, Santhosh Dhanraj, Manju Wahala, Elena Tsangaris, Tom Enbar, Bozana Zlateska, Hongbing Li, Robert J Klaassen, Conrad V Fernandez, Geoff D E Cuvelier, John K Wu, Yves D Pastore, Mariana Silva, Jeffrey H Lipton, Joseé Brossard, Bruno Michon, Sharon Abish, Macgregor Steele, Roona Sinha, Mark J Belletrutti, Vicky R Breakey, Lawrence Jardine, Lisa Goodyear, Liat Kofler, Michaela Cada, Lillian Sung, Mary Shago, Stephen W Scherer, Yigal Dror

Paediatrics Publications

Inherited bone marrow failure syndromes (IBMFSs) comprise a genetically heterogeneous group of diseases with hematopoietic failure and a wide array of physical malformations. Copy number variants (CNVs) were reported in some IBMFSs. It is unclear what impact CNVs play in patients evaluated for a suspected diagnosis of IBMFS. Clinical and genetic data of 323 patients from the Canadian Inherited Marrow Failure Registry from 2001 to 2014, who had a documented genetic work-up, were analyzed. Cases with pathogenic CNVs (at least 1 kilobasepairs) were compared to cases with other mutations. Genotype-phenotype correlations were performed to assess the impact of CNVs. Pathogenic …

Epigenetic Modifications Of Human Placenta Associated With Preterm Birth, Drissa Toure

Theses & Dissertations

Preterm birth is a complex multifactorial process. Despite the well-known role of the placenta in supporting the fetal development and maternal-fetal tolerance, the placental epigenetic modifications and preterm birth (PTB) remains poorly understood and under investigated. Various maternal and environment factors can influence epigenetic programming during fetal development to affect the functioning and structures of organs, including the placenta, which can lead to adverse pregnancy outcomes, including PTB. The understanding of the placental epigenetic alterations and maternal determinants associated with PTB are apparently indispensable for the development of actual diagnosis and methods of prevention and treatment of premature labor. The …

Effect Of Activity Trackers And Text Messaging On Exercise, Fitness, And Physical Activity Self-Efficacy Of Middle School Students, Alison F. Pittman

Nursing Theses and Dissertations

A decrease in physical activity as children age is a contributing factor to the U.S. obesity epidemic. Middle school children are particularly vulnerable to sedentary activities. Activity trackers show promise as a means to motivate children and adults to increase physical activity (PA). This study examined the effect of a text messaging intervention and use of activity trackers with a companion social website on the body mass index (BMI), body fat percentage, physical fitness, and PA self-efficacy of middle school children. Children aged 11-14 (n=102) were randomly assigned to one of three groups for a 10-week intervention: activity tracker group; …

Buprenorphine For The Treatment Of The Neonatal Abstinence Syndrome., Walter K. Kraft, Susan C. Adeniyi-Jones, Inna Chervoneva, Jay S. Greenspan, Diane J. Abatemarco, Karol Kaltenbach, Michelle E. Ehrlich

Department of Obstetrics and Gynecology Faculty Papers

Background: Current pharmacologic treatment of the neonatal abstinence syndrome with morphine is associated with a lengthy duration of therapy and hospitalization. Buprenorphine may be more effective than morphine for this indication. Methods: In this single-site, double-blind, double-dummy clinical trial, we randomly assigned 63 term infants (≥37 weeks of gestation) who had been exposed to opioids in utero and who had signs of the neonatal abstinence syndrome to receive either sublingual buprenorphine or oral morphine. Infants with symptoms that were not controlled with the maximum dose of opioid were treated with adjunctive phenobarbital. The primary end point was the duration of …

Intractable Epilepsy., Sameh Morkous Md, Faan

Department of Pediatrics

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

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)] …