Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Prenatal Nicotine Exposure As A Teratogen In Neurological Pathways, Monica Grover

AUCTUS: The Journal of Undergraduate Research and Creative Scholarship

Attention-deficit/hyperactivity disorder (ADHD) is the most heritable and commonly diagnosed childhood psychiatric disorder with 4% of all children being diagnosed with this disorder. Prenatal smoking has been found to be a risk factor for ADHD, a disorder that has been believed to be linked to the fluctuation of dopamine levels. Prenatal nicotine exposure in the second trimester influences dopaminergic neurological pathways by altering dopamine release levels. The altered dopamine levels make the fetus brain more sensitive to the nicotine, causing the nicotine exposure to be more dangerous in causing ADHD symptoms. Prenatal nicotine exposure alters the neurological pathway of the …

Retrospective Frames Of Disability: Themes Derived From Parents Of Children Who Grew Up With Congenital Disability, Sheryl L. Holt

Theses and Dissertations--Rehabilitation Sciences

Introduction: For children born with physical disabilities, the perspectives and actions of their parents prove significant to their childhood developmental outcomes clinically, educationally, socially, and with regard to community participation. The lived world and perceptions of parents who have children with disabilities however is not well investigated. This study sought to understand parents’ framing of theirs and their children’s disability experiences. Family systems together with family systems intervention models, and disability theory were used to provide structure to interview instrumentation and subsequent analysis. Child-centered and ecologic influences were also used to track the transformative processes over time that infuses parental …

Randomized Trial Of Late Surfactant Treatment In Ventilated Preterm Infants Receiving Inhaled Nitric Oxide., Roberta A. Ballard, Roberta L. Keller, Dennis M. Black, Philip L. Ballard, Jeffrey D. Merrill, Eric C. Eichenwald, William E Truog, Mark C. Mammel, Robin H. Steinhorn, Elizabeth E. Rogers, Rita M. Ryan, David J. Durand, Jeanette M. Asselin, Catherine M. Bendel, Ellen M. Bendel-Stenzel, Sherry E. Courtney, Ramasubbareddy Dhanireddy, Mark L. Hudak, Frances R. Koch, Dennis E. Mayock, Victor J. Mckay, T Michael O'Shea, Nicolas F. Porta, Rajan Wadhawan, Lisa Palermo, Tolsurf Study Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess whether late surfactant treatment in extremely low gestational age (GA) newborn infants requiring ventilation at 7-14 days, who often have surfactant deficiency and dysfunction, safely improves survival without bronchopulmonary dysplasia (BPD).

STUDY DESIGN: Extremely low GA newborn infants (GA ≤28 0/7 weeks) who required mechanical ventilation at 7-14 days were enrolled in a randomized, masked controlled trial at 25 US centers. All infants received inhaled nitric oxide and either surfactant (calfactant/Infasurf) or sham instillation every 1-3 days to a maximum of 5 doses while intubated. The primary outcome was survival at 36 weeks postmenstrual age (PMA) without …

Contraceptive Provision To Adolescent Females Prescribed Teratogenic Medications., Stephani L. Stancil, Melissa K. Miller, Holley Briggs, Daryl Lynch, Kathy Goggin, Gregory Kearns

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Rates of adult women receiving contraceptive provision when simultaneously prescribed a known teratogen are alarmingly low. The prevalence of this behavior among pediatric providers and their adolescent patients is unknown. The objective of this study was to describe pediatric provider behaviors for prescribing teratogens concurrently with counseling, referral, and/or prescribing of contraception (collectively called contraceptive provision) in the adolescent population.

METHODS: A retrospective review was conducted examining visits in 2008-2012 by adolescents aged 14 to 25 years in which a known teratogen (US Food and Drug Administration pregnancy risk category D or X) was prescribed. The electronic …

Whole-Genome Sequencing And Disability In The Nicu: Exploring Practical And Ethical Challenges., Michael J. Deem

Manuscripts, Articles, Book Chapters and Other Papers

Clinical whole-genome sequencing (WGS) promises to deliver faster diagnoses and lead to better management of care in the NICU. However,several disability rights advocates have expressed concern that clinical use of genetic technologies may reinforce and perpetuate stigmatization of and discrimination against disabled persons in medical and social contexts. There is growing need, then, for clinicians and bioethicists to consider how the clinical use of WGS in the newborn period might exacerbate such harms to persons with disabilities. This article explores ways to extend these concerns to clinical WGS in neonatal care. By considering these perspectives during the early phases of …

Renal And Cardiovascular Morbidities Associated With Apol1 Status Among African-American And Non-African-American Children With Focal Segmental Glomerulosclerosis., Robert P. Woroniecki, Derek K. Ng, Sophie Limou, Cheryl A. Winkler, Kimberly J. Reidy, Mark Mitsnefes, Matthew G. Sampson, Craig S. Wong, Bradley A. Warady, Susan L. Furth, Jeffrey B. Kopp, Frederick J. Kaskel

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: African-American (AA) children with focal segmental glomerulosclerosis (FSGS) have later onset disease that progresses more rapidly than in non-AA children. It is unclear how APOL1 genotypes contribute to kidney disease risk, progression, and cardiovascular morbidity in children.

DESIGN SETTING PARTICIPANTS AND MEASUREMENTS: We examined the prevalence of APOL1 genotypes and associated cardiovascular phenotypes among children with FSGS in the Chronic Kidney Disease in Children (CKiD) study; an ongoing multicenter prospective cohort study of children aged 1-16 years with mild to moderate kidney disease.

RESULTS: A total of 140 AA children in the CKiD study were genotyped. High …

Hematologic Outcomes After Total Splenectomy And Partial Splenectomy For Congenital Hemolytic Anemia., Brian R Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M Heeney, C Jason Smithers, Rebeccah L Brown, Theodosia Kalfa, Jacob C Langer, Michaela Cada, Keith T Oldham, J Paul Scott, Mukta Sharma, Andrew M Davidoff, Kerri Nottage, Kathryn Bernabe, David B Wilson, Sanjeev Dutta, Bertil Glader, Shelley E Crary, Melvin S Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Henry E Rice, Splenectomy In Congenital Hemolytic Anemia Consortium, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD).

Methods: The Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium registry collected hematologic outcomes of children with CHA undergoing TS or PS to 1 year after surgery. Using random effects mixed modeling, we evaluated the association of operative type with change in hemoglobin, reticulocyte counts, and bilirubin. We also compared laparoscopic to open splenectomy.

Results: The analysis included 130 children, with 62.3% (n=81) undergoing TS. For children with HS, all …

The Challenge Of Analyzing The Results Of Next-Generation Sequencing In Children., Isabelle Thiffault, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and the complexity of interpreting genomic variants relevant to patient phenotypic features. This article briefly explains the technology by which genomes are sequenced and discusses some of the complexity related to interpreting genomic variants. We conclude with some thoughts on the clinical applications of such testing.

Slug Bug: Quality Improvement With Orchestrated Testing Leads To Nicu Clabsi Reduction., Anthony J. Piazza, Beverly Brozanski, Lloyd Provost, Theresa R. Grover, John Chuo, Joan R. Smith, Teresa Mingrone, Susan Moran, Lorna Morelli, Isabella Zaniletti, Eugenia K. Pallotto

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Reduce central line-associated bloodstream infection (CLABSI) rates 15% over 12 months in children's hospital NICUs. Use orchestrated testing as an approach to identify important CLABSI prevention practices.

METHODS: Literature review, expert opinion, and benchmarking were used to develop clinical practice recommendations for central line care. Four existing CLABSI prevention strategies (tubing change technique, hub care monitoring, central venous catheter access limitation, and central venous catheter removal monitoring) were identified for study. We compared the change in CLABSI rates from baseline throughout the study period in 17 participating centers. Using orchestrated testing, centers were then placed into 1 of 8 …

The Effects Of Testosterone Supplementation On Cognitive Functioning In Older Men, Eka Wahjoepramono, Prita Asih, Vilia Aniwiyanti, Kevin Taddei, Satvinder Dhaliwal, Stephanie Fuller, Jonathan Foster, Malcolm Carruthers, Giuseppe Verdile, Hamid R. Sohrabi, Ralph Martins

Research outputs 2014 to 2021

Reduction in testosterone levels in men during aging is associated with cognitive decline and risk of dementia. Animal studies have shown benefits for testosterone supplementation in improving cognition and reducing Alzheimer’s disease pathology. In a randomized, placebo-controlled, crossover study of men with subjective memory complaint and low testosterone levels, we investigated whether testosterone treatment significantly improved performance on various measures of cognitive functioning. Forty-four men were administered a battery of neuropsychological tests to establish the baseline prior to being randomly divided into two groups. The first group (Group A) received 24 weeks of testosterone treatment (T treatment) followed by 4 …

Diagnostics Of Primary Immunodeficiencies Through Next-Generation Sequencing., Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol J. Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) technologies and proper filtering strategies greatly contributed to this rapid evolution, providing the possibility to rapidly and simultaneously analyze large numbers of genes or the whole exome.

OBJECTIVE: To evaluate the role of targeted NGS and whole exome sequencing (WES) in the diagnosis of a case series, characterized by complex or atypical clinical features suggesting a PID, difficult to diagnose using the current diagnostic procedures.

METHODS: We retrospectively analyzed …

Frequency Of Birth Defects And Its Relationship To Parents Having Interfamily Marriages At A Tertiary Care Hospital, Tufail Soomro, Shiyam Sunder Tikmani

Community Health Sciences

Background: Inter family cousin marriages carries a risk of increased birth defects. The exact contribution of interfamily to birth defects risk is controversial. The aims of this study were to determine the frequency of birth defects in in relation to interfamily or outside family marriages.
Methods: This cross sectional study was conducted in the Civil hospital Sukkur from 9th November 2013 to 13th December 2015. Mothers giving birth to babies married in interfamily or outside family with their consent obtained were included in the study. Mothers not giving consent for study and having any known major illnesses were excluded from …

Frequency Of Retinopathy Of Prematurity In A Tertiary Care Hospital, Shiyam Sunder Tikmani, Tufail Soomro, Prashant Tikmani

Community Health Sciences

Introduction: Retinopathy of prematurity (ROP) is one of a preventable cause of blindness in neonates. Screening of preterm infants for ROP in Pakistan is currently under-recognized. The aim of this study was to determine the frequency of retinopathy of prematurity (ROP) in premature and very low birth weight neonates (birth weight ≤ 1500 g and gestational age ≤ 32 weeks) in a tertiary care hospital, Karachi, Pakistan.
Methods: This was a cross-sectional study carried out in the neonatal intensive care unit (NICU) of Civil Hospital Sukkur from 1st June 2014 to 17th June 2015. Preterm neonates with birth weight ≤ …