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  1. Article ; Online: Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

    Carling, Rachel S / Hedgethorne, Katy / Chakrapani, Anupam / Hall, Patricia L / Flynn, Nick / Greenfield, Toby / Moat, Stuart J / Ssali, Joshua / Shakespeare, Lynette / Taj, Nazia / Wu, Teresa H Y / Anderson, Mark / Ghosh, Arunabha / Lemonde, Hugh / Pierre, Germaine / Sharrard, Mark / Sreekantam, Sreevidya / Bonham, James R

    International journal of neonatal screening

    2024  Volume 10, Issue 1

    Abstract: Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true ... ...

    Abstract Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true positive (TP) and 84 FP cases, with pivalate interference confirmed in 76/84. Initial C5 carnitine (C5C) did not discriminate between FP and TP with median (range) C5C of 2.9 (2.0-9.6) and 4.0 (1.8->70) µmol/L, respectively, and neither did Precision Newborn Screening via Collaborative Laboratory Integrated Reports (CLIR), which identified only 1/47 FP cases. However, among the TP cases, disease severity showed a correlation with initial C5C in 'asymptomatic' individuals (
    Language English
    Publishing date 2024-03-13
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns10010024
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

    Bekri, Soumeya / Bley, Annette / Brown, Heather A / Chanson, Charlotte / Church, Heather J / Gelb, Michael H / Hong, Xinying / Janzen, Nils / Kasper, David C / Mechtler, Thomas / Morton, Georgina / Murko, Simona / Oliva, Petra / Tebani, Abdellah / Wu, Teresa H Y

    Molecular genetics and metabolism

    2024  Volume 142, Issue 1, Page(s) 108436

    Abstract: Newborn screening (NBS) for metachromatic leukodystrophy (MLD) is based on first-tier measurement of sulfatides in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A in the same DBS. This approach is very precise with 0-1 ... ...

    Abstract Newborn screening (NBS) for metachromatic leukodystrophy (MLD) is based on first-tier measurement of sulfatides in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A in the same DBS. This approach is very precise with 0-1 false positives per ∼30,000 newborns tested. Recent data reported here shows that the sulfatide molecular species with an α-hydroxyl, 16‑carbon, mono-unsaturated fatty acyl group (16:1-OH-sulfatide) is superior to the original biomarker 16:0-sulfatide in reducing the number of first-tier false positives. This result is consistent across 4 MLD NBS centers. By measuring 16:1-OH-sulfatide alone or together with 16:0-sulfatide, the estimated false positive rate is 0.048% and is reduced essentially to zero with second-tier arylsulfatase A activity assay. The false negative rate is predicted to be extremely low based on the demonstration that 40 out of 40 newborn DBS from clinically-confirmed MLD patients are detected with these methods. The work shows that NBS for MLD is extremely precise and ready for deployment. Furthermore, it can be multiplexed with several other inborn errors of metabolism already tested in NBS centers worldwide.
    MeSH term(s) Humans ; Leukodystrophy, Metachromatic/diagnosis ; Leukodystrophy, Metachromatic/blood ; Infant, Newborn ; Sulfoglycosphingolipids/blood ; Neonatal Screening/methods ; Cerebroside-Sulfatase/blood ; Cerebroside-Sulfatase/genetics ; Dried Blood Spot Testing/methods ; False Positive Reactions ; Biomarkers/blood
    Chemical Substances Sulfoglycosphingolipids ; Cerebroside-Sulfatase (EC 3.1.6.8) ; Biomarkers
    Language English
    Publishing date 2024-03-22
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2024.108436
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 617: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

    Wu, Teresa H Y / Brown, Heather A / Church, Heather J / Kershaw, Christopher J / Hutton, Rebekah / Egerton, Christine / Cooper, James / Tylee, Karen / Cohen, Rebecca N / Gokhale, David / Ram, Dipak / Morton, Georgina / Henderson, Michael / Bigger, Brian W / Jones, Simon A

    Molecular genetics and metabolism

    2024  Volume 142, Issue 1, Page(s) 108349

    Abstract: Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity and an ... ...

    Abstract Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity and an accumulation of undegraded sulphatide due to pathogenic variants in the ARSA gene. Atidarsagene autotemcel (arsa-cel), an ex vivo haematopoietic stem cell gene therapy was approved for use in the UK in 2021 to treat early-onset forms of pre- or early-symptomatic MLD. Optimal outcomes require early diagnosis, but in the absence of family history this is difficult to achieve without newborn screening (NBS). A pre-pilot MLD NBS study was conducted as a feasibility study in Manchester UK using a two-tiered screening test algorithm. Pre-established cutoff values (COV) for the first-tier C16:0 sulphatide (C16:0-S) and the second-tier ARSA tests were evaluated. Before the pre-pilot study, initial test validation using non‑neonatal diagnostic bloodspots demonstrated ARSA pseudodeficiency status was associated with normal C16:0-S results for age (n = 43) and hence not expected to cause false positive results in this first-tier test. Instability of ARSA in bloodspot required transfer of NBS bloodspots from ambient temperature to -20°C storage within 7-8 days after heel prick, the earliest possible in this UK pre-pilot study. Eleven of 3687 de-identified NBS samples in the pre-pilot were positive for C16:0-S based on the pre-established COV of ≥170 nmol/l or ≥ 1.8 multiples of median (MoM). All 11 samples were subsequently tested negative determined by the ARSA COV of <20% mean of negative controls. However, two of 20 NBS samples from MLD patients would be missed by this C16:0-S COV. A further suspected false negative case that displayed 4% mean ARSA activity by single ARSA analysis for the initial test validation was confirmed by genotyping of this NBS bloodspot, a severe late infantile MLD phenotype was predicted. This led to urgent assessment of this child by authority approval and timely commencement of arsa-cel gene therapy at 11 months old. Secondary C16:0-S analysis of this NBS bloodspot was 150 nmol/l or 1.67 MoM. This was the lowest result reported thus far, a new COV of 1.65 MoM is recommended for future pilot studies. Furthermore, preliminary data of this study showed C16:1-OH sulphatide is more specific for MLD than C16:0-S. In conclusion, this pre-pilot study adds to the international evidence that recommends newborn screening for MLD, making it possible for patients to benefit fully from treatment through early diagnosis.
    MeSH term(s) Humans ; Leukodystrophy, Metachromatic/diagnosis ; Leukodystrophy, Metachromatic/therapy ; Leukodystrophy, Metachromatic/genetics ; Neonatal Screening/methods ; Infant, Newborn ; Pilot Projects ; Cerebroside-Sulfatase/genetics ; Female ; Male ; Sulfoglycosphingolipids ; Infant ; Genetic Therapy
    Chemical Substances Cerebroside-Sulfatase (EC 3.1.6.8) ; Sulfoglycosphingolipids
    Language English
    Publishing date 2024-02-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2024.108349
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 617: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

    Jones, Simon A / Cheillan, David / Chakrapani, Anupam / Church, Heather J / Heales, Simon / Wu, Teresa H Y / Morton, Georgina / Roberts, Patricia / Sluys, Erica F / Burlina, Alberto

    International journal of neonatal screening

    2023  Volume 9, Issue 1

    Abstract: The commentary provided by Maase et al. [ ... ]. ...

    Abstract The commentary provided by Maase et al. [...].
    Language English
    Publishing date 2023-02-16
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns9010008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

    Jones, Simon A / Cheillan, David / Chakrapani, Anupam / Church, Heather J / Heales, Simon / Wu, Teresa H Y / Morton, Georgina / Roberts, Patricia / Sluys, Erica F / Burlina, Alberto

    International journal of neonatal screening

    2022  Volume 8, Issue 1

    Abstract: Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce ... ...

    Abstract Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce caregiver stress in the journey to diagnosis and allow patients to receive early, and potentially pre-symptomatic, treatment. Across Europe there are vast discrepancies in the number of IMDs that are screened for and there is an imminent opportunity to accelerate the expansion of evidence-based screening programmes and reduce the disparities in screening programmes across Europe. A comprehensive list of IMDs was created for analysis. A novel NBS evaluation algorithm, described by Burlina et al. in 2021, was used to assess and prioritise IMDs for inclusion on expanded NBS programmes across Europe. Forty-eight IMDs, of which twenty-one were lysosomal storage disorders (LSDs), were identified and assessed with the novel NBS evaluation algorithm. Thirty-five disorders most strongly fulfil the Wilson and Jungner classic screening principles and should be considered for inclusion in NBS programmes across Europe. The recommended disorders should be evaluated at the national level to assess the economic, societal, and political aspects of potential screening programmes.
    Language English
    Publishing date 2022-03-15
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns8010020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.

    Burlina, Alberto / Jones, Simon A / Chakrapani, Anupam / Church, Heather J / Heales, Simon / Wu, Teresa H Y / Morton, Georgina / Roberts, Patricia / Sluys, Erica F / Cheillan, David

    International journal of neonatal screening

    2022  Volume 8, Issue 2

    Abstract: Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which ... ...

    Abstract Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which disorders are appropriate for screening at birth; however, these criteria are interpreted and implemented by individual countries differently, creating disparities. Advances in research and diagnostics, together with the promise of new treatments, offer new possibilities to accelerate the expansion of evidence-based screening programmes. A novel and robust algorithm was built to objectively assess and prioritise IMDs for inclusion in NBS programmes. The Wilson and Jungner classic screening principles were used as a foundation to develop individual and measurable criteria. The proposed algorithm is a point-based system structured upon three pillars: condition, screening, and treatment. The algorithm was tested by applying the six IMDs currently approved in the United Kingdom NBS programme. The algorithm generates a weight-based score that could be used as the first step in the complex process of evaluating disorders for inclusion on NBS programmes. By prioritising disorders to be further evaluated, individual countries are able to assess the economic, societal and political aspects of a potential screening programme.
    Language English
    Publishing date 2022-03-25
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns8020025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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