Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism

Autor: Willemijn J. van Rijt, Peter C. J. I. Schielen, Yasemin Özer, Klaas Bijsterveld, Fjodor H. van der Sluijs, Terry G. J. Derks, M. Rebecca Heiner-Fokkema

Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 4, p 83 (2020)

Stored dried blood spots (DBS) can provide valuable samples for the retrospective diagnosis of inborn errors of metabolism, and for validation studies for newborn blood spot screening programs. Acylcarnitine species are subject to degradation upon lo

Externí odkaz: https://doaj.org/article/0a387f45ce304d2eac7ad5abcdd06373

Neonatal blood spot screening

Autor: Thulani Ashcroft

Publikováno v: InnovAiT: Education and inspiration for general practice. 14:287-294

This article describes the neonatal or newborn blood spot screening programme (NBSSP) in the United Kingdom. Babies are screened for nine diseases at 5 days of age by a heel prick test. Although midwifes are the primary health practitioner involved i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3a01c2512c873dba1d92bd76e5c4275
https://doi.org/10.1177/1755738021992819

Newborn Screening Knowledge and Attitudes Among Midwives and Out-of-Hospital-Birth Parents

Autor: Elena Coupal, Bob Wong, Erin Rothwell, Kim Hart

Publikováno v: J Perinat Neonatal Nurs

Midwifery and nursing are collaborative partners in both education and practice. Understanding needs and barriers to clinical services such as newborn screening is essential. This study examined knowledge and attitudes of midwives and out-of-hospital

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a0099750b83113ddbb14647d4ca45b
https://doi.org/10.1097/jpn.0000000000000525

928 Missed and delayed newborn blood spot screening in specialist hospitals and neonatal units

Autor: Michele Seddon, Christine Cavanagh, Helen Lewis-Parmar

Publikováno v: Abstracts.

Background Delayed diagnosis means delayed initiation of treatment for screen positive babies in the newborn blood spot screening (NBS) programme which can have a significant impact on long term clinical outcome. The need to repeat a sample because t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b62aaa0f2fc8968d5219d9808e64d37c
https://doi.org/10.1136/archdischild-2021-rcpch.289

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Autor: Karin M. de Winter-de Groot, Hettie M. Janssens, Johan J.P. Gille, J.E. Dankert-Roelse, Rendelien K. Verschoof-Puite, Bernadette S. Jakobs, Yvonne Schönbeck, Marelle J. Bouva, Vincent Gulmans, Paul H. Verkerk, Peter C. J. I. Schielen

Publikováno v: Dankert-Roelse, J E, Bouva, M J, Jakobs, B S, Janssens, H M, de Winter-de Groot, K M, Schönbeck, Y, Gille, J J P, Gulmans, V A M, Verschoof-Puite, R K, Schielen, P C J I & Verkerk, P H 2019, ' Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands ', Journal of Cystic Fibrosis, vol. 18, no. 1, pp. 54-63 . https://doi.org/10.1016/j.jcf.2018.07.008
Journal of Cystic Fibrosis, 18, 54-63
Journal of Cystic Fibrosis, 18(1), 54-63. Elsevier

Background: Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy. Methods: Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710ac096c80326fe980a71dc5a46f73c
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85052059224&origin=inward