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  1. Article ; Online: Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots.

    Coleman T Turgeon / Karen A Sanders / Piero Rinaldo / Dane Granger / Heather Hilgart / Dietrich Matern / Elitza S Theel

    PLoS ONE, Vol 16, Iss 5, p e

    2021  Volume 0252621

    Abstract: Background Dried blood spots (DBS) are an established specimen type for clinical testing given their low cost, ease of collection and storage, and convenient shipping capabilities through the postal system. These attributes are complementary to the ... ...

    Abstract Background Dried blood spots (DBS) are an established specimen type for clinical testing given their low cost, ease of collection and storage, and convenient shipping capabilities through the postal system. These attributes are complementary to the expansion of SARS-CoV-2 serologic testing, which may be used to inform community seroprevalence rates. Methods The Luminex xMAP SARS-CoV-2 Multi-Antigen assay utilizes magnetic beads labeled with three viral antigens (nucleocapsid [NC], receptor binding domain [RBD], spike S1 subunit) to detect anti-viral IgG-class antibodies, and has Food and Drug Administration (FDA) Emergency Use Authorization (EUA) for use in serum and plasma. This assay was modified for use with DBS and validated against paired sera tested by one of two reference assays: the Roche Diagnostics Elecsys anti-SARS-CoV-2 ECLIA or the Euroimmun anti-SARS-CoV-2 IgG ELISA. Results 159 paired DBS and serum specimens analyzed using the modified Luminex xMAP assay on DBS and the reference methods on serum showed an overall concordance of 96.9% (154/159). Use of multivariate pattern recognition software (CLIR) for post-analytical interpretation of the Luminex xMAP DBS assay results, instead of manufacturer provided interpretive thresholds, increased overall qualitative result concordance to 99.4% (158/159) between the modified Luminex xMAP DBS and reference results. Conclusions Use of DBS for detection of antibodies against SARS-CoV-2 provides comparable results to those obtained using serum. DBS concordance was improved with multivariate pattern recognition software (CLIR). We demonstrate that DBS are a reliable specimen type for SARS-CoV-2 antibody detection using the modified Luminex xMAP assay.
    Keywords Medicine ; R ; Science ; Q
    Subject code 630
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

    Jennifer M. Kwon / Dietrich Matern / Joanne Kurtzberg / Lawrence Wrabetz / Michael H. Gelb / David A. Wenger / Can Ficicioglu / Amy T. Waldman / Barbara K. Burton / Patrick V. Hopkins / Joseph J. Orsini

    Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-

    2018  Volume 10

    Abstract: Abstract Background Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation ...

    Abstract Abstract Background Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves survival and clinical outcomes. However, without a family history, most cases of infantile Krabbe disease present after onset of symptoms and are ineligible for transplantation. In 2006, New York began screening newborns for Krabbe disease to identify presymptomatic cases. To ensure that those identified with infantile disease received timely treatment, New York public health and medical systems took steps to accurately diagnose and rapidly refer infants for human stem cell transplantation within the first few weeks of life. After 11 years of active screening in New York and the introduction of Krabbe disease newborn screening in other states, new information has been gained which can inform the design of newborn screening programs to improve infantile Krabbe disease outcomes. Findings Recent information relevant to Krabbe disease screening, diagnosis, and treatment were assessed by a diverse group of public health, medical, and advocacy professionals. Outcomes after newborn screening may improve if treatment for infantile disease is initiated before 30 days of life. Newer laboratory screening and diagnostic tools can improve the speed and specificity of diagnosis and help facilitate this early referral. Given the rarity of Krabbe disease, most recommendations were based on case series or expert opinion. Conclusion This report updates recommendations for Krabbe disease newborn screening to improve the timeliness of diagnosis and treatment of infantile Krabbe disease. In the United States, several states have begun or are considering Krabbe disease newborn screening. These recommendations can guide public health laboratories on methodologies for screening and inform clinicians about the need to promptly diagnose and treat infantile Krabbe disease. ...
    Keywords Krabbe disease ; Newborn screening ; Guidelines ; Human stem cell transplantation ; Infantile Krabbe disease ; Confirmatory testing ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2018-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response.

    Srinivas Sonne / Prem S Shekhawat / Dietrich Matern / Vadivel Ganapathy / Leszek Ignatowicz

    PLoS ONE, Vol 7, Iss 10, p e

    2012  Volume 47729

    Abstract: We have investigated the gross, microscopic and molecular effects of carnitine deficiency in the neonatal gut using a mouse model with a loss-of-function mutation in the OCTN2 (SLC22A5) carnitine transporter. The tissue carnitine content of neonatal ... ...

    Abstract We have investigated the gross, microscopic and molecular effects of carnitine deficiency in the neonatal gut using a mouse model with a loss-of-function mutation in the OCTN2 (SLC22A5) carnitine transporter. The tissue carnitine content of neonatal homozygous (OCTN2(-/-)) mouse small intestine was markedly reduced; the intestine displayed signs of stunted villous growth, early signs of inflammation, lymphocytic and macrophage infiltration and villous structure breakdown. Mitochondrial β-oxidation was active throughout the GI tract in wild type newborn mice as seen by expression of 6 key enzymes involved in β-oxidation of fatty acids and genes for these 6 enzymes were up-regulated in OCTN2(-/-) mice. There was increased apoptosis in gut samples from OCTN2(-/-) mice. OCTN2(-/-) mice developed a severe immune phenotype, where the thymus, spleen and lymph nodes became atrophied secondary to increased apoptosis. Carnitine deficiency led to increased expression of CD45-B220(+) lymphocytes with increased production of basal and anti-CD3-stimulated pro-inflammatory cytokines in immune cells. Real-time PCR array analysis in OCTN2(-/-) mouse gut epithelium demonstrated down-regulation of TGF-β/BMP pathway genes. We conclude that carnitine plays a major role in neonatal OCTN2(-/-) mouse gut development and differentiation, and that severe carnitine deficiency leads to increased apoptosis of enterocytes, villous atrophy, inflammation and gut injury.
    Keywords Medicine ; R ; Science ; Q
    Subject code 570
    Language English
    Publishing date 2012-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

    Novarino, Gaia / A. Gulhan Ercan-Sencicek / Abha R. Gupta / Adel F. Hashish / Dietrich Matern / Eric M. Scott / Hebatalla S. Hashem / Hulya Kayserili / Jana Schroth / Jennifer L. Silhavy / Joseph G. Gleeson / Larry Sweetman / Majdi Kara / Matthew W. State / Nagwa A. Meguid / Paul El-Fishawy / Rehab O. Khalil / Robert A. Harris / Stacey Gabriel /
    Stephan J. Sanders / Tawfeg Ben-Omran / Yasmeen Rahimi

    Science. 2012 Oct. 19, v. 338, no. 6105

    2012  

    Abstract: A Fine Balance Intellectual and neurological disabilities can arise from diverse developmental aberrations. Novarino et al. (p. 394, published online 6 September; see the Perspective by Beaudet) have now determined the genetic basis for one such disorder ...

    Abstract A Fine Balance Intellectual and neurological disabilities can arise from diverse developmental aberrations. Novarino et al. (p. 394, published online 6 September; see the Perspective by Beaudet) have now determined the genetic basis for one such disorder for a small group of patients. Exome sequencing led to identification of mutations in a kinase BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) that regulates metabolism of branched-chain amino acids such as valine, leucine, and isoleucine. Mice with homozygous mutations in the BCKDK gene showed developmental and neurological abnormalities resembling those in certain mouse autism models. Analysis of transport mechanisms responsible for carrying amino acids across the blood-brain barrier revealed competition between the branched-chain amino acids and large neutral amino acids. Nutritional supplementation with extra branched-chain amino acids in the diet of mice carrying homozygous mutations in the BCKDK gene normalized their phenotype.
    Keywords 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) ; autism ; blood-brain barrier ; dietary supplements ; epilepsy ; genes ; homozygosity ; isoleucine ; leucine ; metabolism ; mice ; models ; mutation ; patients ; phenotype ; sequence analysis ; valine
    Language English
    Dates of publication 2012-1019
    Size p. 394-397.
    Publishing place American Association for the Advancement of Science
    Document type Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.1224631
    Database NAL-Catalogue (AGRICOLA)

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