Abnormal Newborn Screen in a WHIM Syndrome InfantLYMPHOPENIASEVERE combined immunodeficiencyNEWBORN screeningHEALINGMEDICAL careINFANTSSYNDROMESJournal of Clinical Immunology -doi:10.1007/s10875-019-00686-5Martin O. EvansDavid H. McDermottPhilip M. Murphy...
A Retrospective Chart Review of Infants Referred for Abnormal TREC on Newborn ScreenThe following case report details an in-flight medical emergency (IFME) that occurred during a trans-continental flight while the authors were en route to a medical conference. The report highlights the necessity ...
In mucopolysaccharidosis type III (MPS III, also known as Sanfilippo syndrome), a pediatric neurodegenerative disorder, accumulation of abnormal glycosaminoglycans (GAGs) induces severe neuroinflammation by triggering the microglial pro-inflammatory cyto
Abnormal Newborn SCID Screen and Lymphopenia in an Infant Exposed to in Utero Folfirinox Chemotherapydoi:10.1016/j.jaci.2015.12.074DanielH.PetroniKatheyMohanAndrewCovelerTroyR.TorgersonSDOSJournal of Allergy & Clinical Immunology
Newborn screening for inborn errors of metabolism (IEM) can help prevent or reduce mortality and morbidity through timely identification and subsequent treatment. North Carolina (NC) uses tandem mass spectrometry to screen newborns for over 25 IEM. This dissertation is divided into three parts. The...
Newborn screenSCID screen protocolNewborn screening for severe combined immunodeficiency has been implemented in all 50 states. This screening identifies newborns with T-cell lymphopenia. After an abnormal screening, additional testing is needed to determine if the child has severe combined ...
Cause of death in infants with an abnormal or inconclusive T cell receptor excision circle (TREC) assay on newborn screening for severe combined immune deficiency (SCID)Accetta, D JBaker, M WBrokopp, C DVerbsky, JRoutes, J M
Whole Exome Sequencing Should Be Done For Every Abnormal Newborn ScreenHeimall, JenniferHeimall, Jennifer
Prolonged furosemide exposure and risk of abnormal newborn hearing screen in premature infantsHearing lossPretermDiureticSafetyOtotoxicityBackground: At very high doses, furosemide is linked to ototoxicity in adults, but little is known about the risk of hearing loss in premature infants exposed to ...
Introduction While newborn screening (NBS) using T-cell receptor excision circle (TREC) analysis was introduced primarily to screen for severe combined immunodeficiency (SCID), it also identifies T-cell lymphopenia or low naive T-cell numbers due to other etiologies. Cartilage-hair hypoplasia (CHH)...