Open Access. Powered by Scholars. Published by Universities.®
- Discipline
Articles 1 - 3 of 3
Full-Text Articles in Medicine and Health Sciences
Implementation Of Rapid Genomic Sequencing In Safety-Net Neonatal Intensive Care Units: Protocol For The Virtual Genome Center (Vigor) Proof-Of-Concept Study., Alissa M D'Gama, Sonia Hills, Jessica Douglas, Vanessa Young, Casie A Genetti, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Pankaj B Agrawal, T. Allcroft, Vineet Bhandari, L. Cantu, D. Honrubia, A. Kritzer, Q. Li, L. Rhein, R. Rothstein, O. Salinas, A. Santana, K. Schmitz-Abe, A. Serna, F. Shapiro, A. B. Shenoy, L. Simoncini, B. Sinha, A. S. Verran, A. Sousa, M. T. Newsam
Implementation Of Rapid Genomic Sequencing In Safety-Net Neonatal Intensive Care Units: Protocol For The Virtual Genome Center (Vigor) Proof-Of-Concept Study., Alissa M D'Gama, Sonia Hills, Jessica Douglas, Vanessa Young, Casie A Genetti, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Pankaj B Agrawal, T. Allcroft, Vineet Bhandari, L. Cantu, D. Honrubia, A. Kritzer, Q. Li, L. Rhein, R. Rothstein, O. Salinas, A. Santana, K. Schmitz-Abe, A. Serna, F. Shapiro, A. B. Shenoy, L. Simoncini, B. Sinha, A. S. Verran, A. Sousa, M. T. Newsam
Cooper Medical School of Rowan University Faculty Scholarship
INTRODUCTION: Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to offer state-of-the-art genomic care. Critically ill infants from racial and ethnic minority and/or low-income populations disproportionately receive care in safety-net and/or community settings lacking access to state-of-the-art genomic care, contributing to unacceptable health equity gaps. VIrtual GenOme CenteR is a 'proof-of-concept' implementation science study of an innovative delivery model for genomic care in safety-net neonatal intensive care units (NICUs).
METHODS AND ANALYSIS: We developed a …
Spherocytosis In Newborn Secondary To Novel Heterozygous Mutation In, Daphna Varadi, Benjamin Caplan, Maria Scarano, Rafat Ahmed
Spherocytosis In Newborn Secondary To Novel Heterozygous Mutation In, Daphna Varadi, Benjamin Caplan, Maria Scarano, Rafat Ahmed
Cooper Medical School of Rowan University Faculty Scholarship
This case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and a peripheral blood smear notable for numerous spherocytes. His laboratory work demonstrated persistent anemia despite daily folate prompting next-generation sequencing which revealed a novel mutation in the SPTB gene resulting in a nonfunctioning protein product. Correlation of the genetic finding with clinical presentation may help guide management for this and future patients.
Maternal Biomarkers Of Endothelial Dysfunction And Preterm Delivery, Xinhua Chen, Theresa O Scholl
Maternal Biomarkers Of Endothelial Dysfunction And Preterm Delivery, Xinhua Chen, Theresa O Scholl
Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship
BACKGROUND: Endothelial dysfunction is key to the development of atherosclerosis. Preterm delivery foreshadows later maternal cardiovascular disease (CVD), but it is not known if endothelial dysfunction also occurs. We prospectively measured circulating biomarkers of endothelial dysfunction in pregnant women with preterm or term delivery.
METHODS: We conducted a case-control study nested within a large prospective epidemiological study of young, generally healthy pregnant women. Women who delivered preterm (gestation, n = 240) and controls who delivered at term (n = 439) were included. Pregnancies complicated by preeclampsia were analyzed separately. Circulating endothelial dysfunction biomarkers included soluble intercellular adhesion molecule-1 (sICAM-1), vascular …