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3101MCID_676f086d0ffb18acb10bff74 36975849 George J Dizikes[author] Dizikes, George J[Full Author Name] dizikes, george j[Author] trying2...
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3697584920230331
2409-515X912023Feb27International journal of neonatal screeningInt J Neonatal ScreenHarmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.1110.3390/ijns9010011In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive results and lower positive predictive values. Harmonization has been proposed as a way to minimize false-negative and false-positive results and correct for method differences, so we harmonized enzyme activities for Pompe and MPS I across laboratories and testing methods (Tandem Mass Spectrometry (MS/MS) or Digital Microfluidics (DMF)). Participating states analyzed proofof- concept calibrators, blanks, and contrived specimens and reported enzyme activities, cutoffs, and other testing parameters to Tennessee. Regression and multiples of the median were used to harmonize the data. We observed varied cutoffs and results. Six of seven MS/MS labs reported enzyme activities for one specimen for MPS I marginally above their respective cutoffs with results classified as negative, whereas all DMF labs reported this specimen's enzyme activity below their respective cutoffs with results classified as positive. Reasonable agreement in enzyme activities and cutoffs was achieved with harmonization; however, harmonization does not change how a value would be reported as this is dependent on the placement of cutoffs.DorleyM ChristineMC0000-0002-7924-8521Tennessee Department of Health, Division of Laboratory Services, Nashville, TN 37243, USA.College of Health Sciences & Public Policy, Walden University, Minneapolis, MN 55401, USA.DizikesGeorge JGJ0000-0003-3581-6651Tennessee Department of Health, Division of Laboratory Services, Knoxville, TN 37920, USA.PickensCharles AustinCA0000-0003-1632-5777Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.CuthbertCarlaCDivision of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.BasheeruddinKhajaKIllinois Department of Public Health, Chicago, IL 60612, USA.Gulamali-MajidFizzaFMaryland Department of Health, Baltimore, MD 21205, USA.HetterichPaulPVirginia Department of General Services, Division of Consolidated Laboratory Services, Richmond, VA 23219, USA.HietalaAmyAMinnesota Department of Health, St. Paul, MN 55155, USA.KelseyAshleyAMichigan Department of Health & Human Services, Lansing, MI 48906, USA.KlugTracyTMissouri State Public Health Laboratory, Jefferson City, MO 65101, USA.LeskoBarbaraBDepartment of Pathology, Indiana University, Indianapolis, IN 46202, USA.MillsMichelleMKansas Health and Environmental Laboratories, Topeka, KS 66620, USA.MoloneyShawnSMichigan Department of Health & Human Services, Lansing, MI 48906, USA.NeogiParthaPCalifornia Department of Public Health, Richmond, CA 94804, USA.OrsiniJosephJWadsworth Center, New York State Department of Health, Albany, NY 12208, USA.SingerDouglasDOhio Department of Health, Reynoldsburg, OH 43068, USA.PetritisKonstantinosK0000-0001-8660-8532Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.engCDC-RFA-EH18-1804CCCDC HHSUnited StatesJournal Article20230227
SwitzerlandInt J Neonatal Screen1016654002409-515XMPS Idigital microfluidicsharmonizationmultiples of the mediannewborn screeningpomperegressiontandem mass spectrometryThe authors declare no conflict of interest.20231302023214202321620233296120233281082023329602023227epublish36975849PMC1005989610.3390/ijns9010011ijns9010011McCandless S.E., Wright E.J. Mandatory newborn screening in the United States: History, current status, and existential challenges. Birth Defects Res. 2020;110:350–366. doi: 10.1002/bdr2.1653.10.1002/bdr2.165332115905Newborn Screening Timeliness Goals. [(accessed on 24 February 2021)]; Available online: https://www.hrsa.gov/advisory-committees/heritable-disorders/newborn-screening-timeliness.html.Gabler E. Lab’s Standards Missed Baby’s Serious Disorder: Uniformity Lacking in States’ Screenings. [(accessed on 24 February 2021)];J. Sentin. 2016 Available online: https://projects.jsonline.com/news/2016/12/29/uniformity-lacking-for-newborn-screening.html.Gabler E. Federal Committee to Study Lack of Uniformity in Newborn Testing. [(accessed on 24 February 2021)];J. Sentin. 2017 Available online: https://www.jsonline.com/story/news/investigations/2017/02/10/federal-committee-study-lack-uniformity-newborn-testing/97703280/Recommended Uniform Screening Panel. [(accessed on 5 April 2020)]; Available online: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html.Orsini J.J., Culley L., Dorley M.C., Haynes C.A., Hunt P., Koupaei R., Manning A., Neogi P., Dhillon K., Roworth P., et al. Multi-state harmonization study: Efforts to harmonize the cutoffs used in newborn screening for adrenoleukodystrophy. Int. J. Neonatal Screen. 2020;6:75.0Bosfield K., Regier D.S., Viall S., Hicks R., Shur N., Grant C.L. Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations. Am. J. Med. Genet. 2020;185:134–140. doi: 10.1002/ajmg.a.61930.10.1002/ajmg.a.6193033098355Taylor J.L., Lee S. Lessons learned from newborn screening pilots studies. NCJM. 2019;80:54–58. doi: 10.18043/ncm.80.1.54.10.18043/ncm.80.1.5430622208Wasserstein M.P., Caggana M., Bailey S.M., Desnick R.J., Edelmann L., Estrella L., Holzman I., Kelly N.R., Kornreich R., Kupchik S.G., et al. The New York pilot newborn screening program for lysosomal storage diseases: Report of the first 65,000 infants. Genet. Med. 2019;21:631–640. doi: 10.1038/s41436-018-0129-y.10.1038/s41436-018-0129-yPMC636901430093709Gelb M.H. Newborn screening for lysosomal storage diseases: Methodologies, screen positive rates, normalization of datasets, second-tier tests, and post-analysis tools. Int. J. Neonatal Screen. 2018;4:23. doi: 10.3390/ijns4030023.10.3390/ijns4030023PMC641997130882045Waggoner D.J., Tan C.A. Expanding newborn screening for lysosomal disorders: Opportunities and challenges. Dev. Disabil. Res. Rev. 2011;17:9–14. doi: 10.1002/ddrr.132.10.1002/ddrr.13222447749Kelly N., Makarem D.C., Wasserstein M.P. Screening of newborns for disorders with high benefit-risk ratios should be mandatory. J. Law Med. Ethics. 2016;44:231–240. doi: 10.1177/1073110516654133.10.1177/1073110516654133PMC538115327338599Lisi E.C., McCandless S.E. Newborn screening for lysosomal storage disorders: Views of genetic healthcare providers. J. Genet. Counsel. 2016;25:373–384. doi: 10.1007/s10897-015-9879-8.10.1007/s10897-015-9879-826315880Parini R., Broomfield A., Cleary M.A., De Meirleir L., Di Rocco M., Fathalla W.M., Guffon N., Lampe C., Lund A.M., Scarpa M., et al. International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. J. Acta Paediatr. 2018;107:2059–2065. doi: 10.1111/apa.14587.10.1111/apa.14587PMC628298030242902Hall P.L., Sanchez R., Hagar A.F., Jerris S.C., Wittenauer A., Wilcox W.R. 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The impact of false-positive newborn screening results on families: A qualitative study. Genet. Med. 2012;14:76–80. doi: 10.1038/gim.2011.5.10.1038/gim.2011.522237434Burlina A.B., Polo G., Rubert L., Gueraldi D., Cazzorla C., Duro G., Salviati L., Burlina A.P. Implementation of second-tier tests in newborn screening for lysosomal disorders in North Eastern Italy. Int. J. Neonatal Screen. 2019;5:24. doi: 10.3390/ijns5020024.10.3390/ijns5020024PMC751022533072983Washburn J., Millington D.S. Digital microfluidics in newborn screening for mucopolysaccharidoses: A progress report. Int. J. Neonatal Screen. 2020;6:78. doi: 10.3390/ijns6040078.10.3390/ijns6040078PMC771164833124616Gragnaniello V., Gueraldi D., Rubert L., Manzoni F., Cazzorla C., Giuliani A., Polo G., Salviati L., Burlina A. Report of five years of experience in neonatal screening for mucopolysaccharidosis type I and review of the literature. Int. J. Neonatal Screen. 2020;6:85. doi: 10.3390/ijns6040085.10.3390/ijns6040085PMC771250733147872Tortorelli S., Eckerman J.S., Orsini J.J., Stevens C., Hart J., Hall P.L., Alexander J.J., Gavrilov D., Oglesbee D., Raymond K., et al. Moonlighting newborn screening markers: The incidental discovery of a second-tier test for Pompe Disease. Genet. Med. 2017;20:840–846. doi: 10.1038/gim.2017.190.10.1038/gim.2017.19029095812Minter Baerg M.M., Stoway S.D., Hart J., Mott L., Peck D.S., Nett S.L., Eckerman J.S., Lacey J.M., Turgeon C.T., Gavrilov D., et al. Precision newborn screening for lysosomal disorders. Genet. Med. 2018;20:847–854. doi: 10.1038/gim.2017.194.10.1038/gim.2017.19429120458Pickens C.A., Sternberg M., Seeterlin M., De Jesús V.R., Morrisey M., Manning A., Bhakta S., Held P.K., Mei J., Cuthberth C., et al. Harmonizing newborn screening laboratory proficiency test results using the CDC NSQAP reference materials. Int. J. Neonatal Screen. 2020;6:75. doi: 10.3390/ijns6030075.10.3390/ijns6030075PMC757019833123642Plebani M. Harmonization in laboratory medicine: The complete picture. Clin. Chem. Lab. Med. 2013;51:741–751. doi: 10.1515/cclm-2013-0075.10.1515/cclm-2013-007523435100Clinical Laboratory Standards Institute (CLSI) Harmonized Terminology Database. [(accessed on 5 April 2022)]. Available online: https://htd.clsi.org/listterms.asp?searchdterm=harmonization.Donati M.A., Pasquini E., Spada M., Polo G., Burlina A. Newborn screening in mucopolysaccharidoses. Ital. J. Pediatr. 2018;44:25–34. doi: 10.1186/s13052-018-0552-3.10.1186/s13052-018-0552-3PMC623825430442156Polo G., Gueraldi D., Giuliani A., Rubert L., Cazzorla C., Salviati L., Marzollo A., Biffi A., Burlina A.P., Burlina A.B. The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I. Clin. Chem. Lab. Med. 2020;58:2063–2070. doi: 10.1515/cclm-2020-0064.10.1515/cclm-2020-006432432561Cogley M.F., Wiberley-Bradford A.E., Mochal S.T., Dawe S.J., Piro Z.D., Baker M.W. Newborn screening for severe combined immunodeficiency using the multiple of the median values of t-cell receptor excision circles. Int. J. Neonatal Screen. 2021;7:43. doi: 10.3390/ijns7030043.10.3390/ijns7030043PMC829325434287245Gelb M.H., Lukacs Z., Ranieri E., Schielen P.C.J.I. Newborn screening for lysosomal storage disorders: Methodologies for measurement of enzymatic activities in dried blood spots. Int. J. Neonatal Screen. 2019;5:1. doi: 10.3390/ijns5010001.10.3390/ijns5010001PMC644857030957052Hopkins P.V., Campbell C., Klug T., Rogers S., Raburn-Miller J., Kiesling J. Lysosomal storage disorder screening implementation: Findings from the first six months of full population pilot testing in Missouri. Int. J. 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Available online: https://www.newsteps.org/De Jesus V.R., Zhang X.K., Keutzer J., Bodamer O.A., Mühl A., Orsini J.J., Caggana M., Vogt R.F., Hannon W.H. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin. Chem. 2009;55:158–164. doi: 10.1373/clinchem.2008.111864.10.1373/clinchem.2008.11186418988750NSQAP Annual Report Volume 38. [(accessed on 9 December 2021)]; Available online: https://www.cdc.gov/labstandards/pdf/nsqap/NSQAP_Annual_Summary_2020-508.pdf.NSQAP Annual Report Volume 39a. [(accessed on 1 September 2022)]; Available online: https://www.cdc.gov/labstandards/pdf/nsqap/NSQAP_Annual_Summary_2021_Amended-508.pdf.R Core Team . R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing; Vienna, Austria: 2017.NeoLSD MSMS kit 3093-0020 product insert. 2018. Version 13908726-1 (en)Seeker LSD Reagent kit-IDUA, GAA, GBA, GLA product insert. NBS-01-00122 Revision 16.Mechtler T.P., Metz T.F., Müller H., Ostermann K., Ratschmann R., De Jesus V.R., Shushan B., Di Bussolo J.M., Herman J.L., Herkner K.R., et al. Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2012;908:9–17. doi: 10.1016/j.jchromb.2012.09.012.10.1016/j.jchromb.2012.09.012PMC453902323122395Robinson B.H., Gelb M.H. The importance of assay imprecision near the screen cutoff for newborn screening of lysosomal storage diseases. Int. J. Neonatal Screen. 2019;5:17. doi: 10.3390/ijns5020017.10.3390/ijns5020017PMC664156131328175Liao H., Chan M., Yang C., Chiang C., Niu D., Huang C., Gelb M.H. Mass spectrometry but not fluorometry distinguishes affected and pseudodeficiency patients in newborn screening for Pompe disease. Clin. 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2020Nov16medRxiv : the preprint server for health sciencesmedRxivPrevalence of IgG antibodies against the severe acute respiratory syndrome coronavirus-2 among healthcare workers in Tennessee during May and June, 2020.2020.11.12.2023091210.1101/2020.11.12.20230912SARS-CoV-2 seroprevalence was low (<1%) in this large population of healthcare workers (HCWs) across the state of Tennessee (n=11,787) in May-June 2020. Among those with PCR results, 81.5% of PCR and antibody test results were concordant. SARS-CoV-2 seroprevalence was higher among HCWs working in high-community-transmission regions and among younger workers.These results may be seen as a baseline assessment of SARS-CoV-2 seroprevalence among HCWs in the American South during a period of growth, but not yet saturation, of infections among susceptible populations. In fact, this period of May-June 2020 was marked by the extension of renewed and sustained community-wide transmission after mandatory quarantine periods expired in several more populous regions of Tennessee. Where community transmission remains low, HCWs may still be able to effectively mitigate SARS-CoV-2 transmission, preserving resources for populations at high risk of severe disease, and these sorts of data help highlight such strategies.RebeiroPeter FPF0000-0003-1951-9104LevinsonKara JKJJollyLindsayLKassensElizabethEDizikesGeorge JGJSteeceRichard SRSMetzgerDavid CDCLoosMatthewMBuchheitRonRDuncanLisa DLDRolandoLori ALASchmitzJonathanJHartHeather AHAAronoffDavid MDMengPreprint20201116
United StatesmedRxiv101767986202011255472020112660202011266120201124epublish33236027PMC768534010.1101/2020.11.12.202309122020.11.12.20230912151528312004072720190522
1040-63871632004MayJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncJ Vet Diagn InvestWest Nile virus infection in free-ranging squirrels in Illinois.186190186-90West Nile virus (WNV) infection was diagnosed in 13 gray squirrels (Sciurus carolinensis) and 3 fox squirrels (Sciurus niger) that were observed with neurologic signs before death or found dead. All 16 had gliosis throughout all sections of the brain. Most had lymphoplasmacytic encephalitis or meningoencephalitis, many with admixed neutrophils. Neuronal necrosis and neuronophagia were also prominent features. West Nile virus antigen was demonstrated in the brain, spleen, heart or kidney in 10 of 13 gray squirrels and 3 of 3 fox squirrels by immunohistochemistry. Nucleic acid amplification tests (NAATs) confirmed the presence of WNV in the brain or spinal cord of 10/10 gray squirrels and 1/3 fox squirrels tested. Viral levels were quantified in various tissues of selected gray squirrels, and titers were highest in spleen and brain, with no virus detected in serum. This is the first description of lesions associated with WNV infection in gray and fox squirrels.Heinz-TahenyKathleen MKMVeterinary Diagnostic Laboratory, Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Illinois, Urbana, IL 61802, USA.AndrewsJohn JJJKinselMichael JMJPessierAllan PAPPinkertonMarie EMELembergerKarin YKYNovakRobert JRJDizikesGeorge JGJEdwardsEricEKomarNicholasNengU50/CCU520518-02CCODCDC CDC HHSUnited StatesJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.Research Support, U.S. Gov't, P.H.S.
United StatesJ Vet Diagn Invest90114901040-63870RNA, ViralIMAnimalsBrainvirologyFemaleIllinoisepidemiologyImmunohistochemistryveterinaryMaleNeuronsvirologyRNA, ViralchemistrygeneticsReverse Transcriptase Polymerase Chain ReactionveterinaryRodent DiseasesepidemiologyvirologySciuridaeWest Nile FeverepidemiologypathologyveterinaryvirologyWest Nile virusgeneticsisolation & purification200452250200472850200452250ppublish1515283110.1177/104063870401600302trying2...
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Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.
M Christine Dorley George J Dizikes Charles Austin Pickens Carla Cuthbert Khaja Basheeruddin

Int J Neonatal Screen

February 2023

In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive results and lower positive predictive values. Harmonization has been proposed as a way to minimize false-negative and false-positive results and correct for method differences, so we harmonized enzyme activities for Pompe and MPS I across laboratories and testing methods (Tandem Mass Spectrometry (MS/MS) or Digital Microfluidics (DMF)).

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Prevalence of IgG antibodies against the severe acute respiratory syndrome coronavirus-2 among healthcare workers in Tennessee during May and June, 2020.
Peter F Rebeiro Kara J Levinson Lindsay Jolly Elizabeth Kassens George J Dizikes

medRxiv

November 2020

Unlabelled: SARS-CoV-2 seroprevalence was low (<1%) in this large population of healthcare workers (HCWs) across the state of Tennessee (n=11,787) in May-June 2020. Among those with PCR results, 81.5% of PCR and antibody test results were concordant.

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West Nile virus infection in free-ranging squirrels in Illinois.
Kathleen M Heinz-Taheny John J Andrews Michael J Kinsel Allan P Pessier Marie E Pinkerton George J Dizikes

J Vet Diagn Invest

May 2004

West Nile virus (WNV) infection was diagnosed in 13 gray squirrels (Sciurus carolinensis) and 3 fox squirrels (Sciurus niger) that were observed with neurologic signs before death or found dead. All 16 had gliosis throughout all sections of the brain. Most had lymphoplasmacytic encephalitis or meningoencephalitis, many with admixed neutrophils.

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