Results 111 to 120 of about 1,360,274 (268)

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Parent Experience and Attitudes Towards Newborn Bloodspot Screening in Ireland

International Journal of Neonatal Screening
The aim of the evaluation was to gather information on parents’ experiences and attitudes towards the Irish National Newborn Bloodspot Screening Programme (NNBSP).
Mairéad Bracken-Scally, Anna O’Loughlin, Heather Burns   +2 more
doaj   +1 more source

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease
The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS,
M. Langeveld, Sandra Sirrs, D. Schoenmakers, Timothy N. Fazio, M. M. van der Klauw, François Maillot, Reena Sharma, Christel Tran, A. Ziagaki, F. Mochel   +9 more
semanticscholar   +1 more source

Disparities or Inequities in Newborn Screening (NBS) Programs

The subject of the title is discussed from personal experience in Galicia (Spain), with a brief allusion to the beginning of NBS, indicating that without diagnosis, there can be no treatment, in luding the outstanding role played by LI Woolf, who always advocated not limiting it to PKU, and ignorance of their work, even in the hospital itself, with a ...
openaire   +1 more source

Three‐Dimensional Scaffolds for Bone, Soft Tissue, and Periodontal Regeneration

Journal of Periodontal Research, EarlyView.
Three‐dimensional scaffolds offer tissue‐specific control of architecture, mechanics, porosity, and functionalisation to improve bone, soft tissue, and periodontal regeneration. ABSTRACT The oral cavity presents three distinct regenerative challenges: restoration of alveolar bone volume and stability, augmentation of soft mucogingival tissues, and ...
Reuben Staples, Jamil Alayan, Raghavendra Vamsi Anegundi, Marisca Pereira, Saraswat Basu, Sašo Ivanovski   +5 more
wiley   +1 more source

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

BMJ Open
Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions.
S. Lunke, Sophie E. Bouffler, L. Downie, J. Caruana, D. Amor, Alison D. Archibald, Yvonne Bombard, J. Christodoulou, Marc Clausen, Paul de Fazio, R. Greaves, S. Hollizeck, A. Kanga-Parabia, N. Lang, Fiona Lynch, Riccarda Peters, S. Sadedin, E. Tutty, S. Eggers, Crystle Lee, M. Wall, A. Yeung, C. Gaff, C. Gyngell, D. Vears, Stephanie Best, I. Goranitis, Zornitza Stark   +27 more
semanticscholar   +1 more source

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

, 2018
Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel ...
Jakobs, Bernadette S, Schielen, Peter C J I, Janssens, Hettie M, Gille, Johan J P, Verschoof-Puite, Rendelien K, de Winter-de Groot, Karin M, Gulmans, Vincent A M, Schönbeck, Yvonne, Bouva, Marelle J, Dankert-Roelse, Jeannette E, Verkerk, Paul H, Janssens, Hettie, Schonbeck, Y, Dankert-Roelse, JE, Gulmans, VAM, Bouva, MJ, de Winter-de Groot, KM, Schielen, P, Jakobs, BS, Verkerk, PH, Gille, JJP, Verschoof-Puite, RK   +21 more
core   +1 more source

Symphonic Gift: Wagner's Siegfried Idyll and the Hermeneutics of Sonata Form

Music Analysis, EarlyView.
ABSTRACT This article reimagines the place of programmatic interpretation within the New Formenlehre through the case study of Richard Wagner's Siegfried Idyll. To theorise the interaction between form and programme, I reconcile ‘separation’ and ‘conflation’ views – as represented by Julian Horton (2020) and Lawrence Kramer (2004a) – by deploying ...
RAFAEL ECHEVARRIA
wiley   +1 more source

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

International Journal of Neonatal Screening
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study
Cheng-Fang Tang, Lixin Li, Ting Chen, Yu-Lin Li, Bo Zhu, Yin-Hong Zhang, Yi-fan Yin, Xiu-Lian Liu, Cidan Huang, Jingkun Miao, Bao-Sheng Zhu, Xiaohua Wang, Hui Zou, Lian-Shu Han, Ji-Zhen Feng, Yong-Lan Huang   +15 more
semanticscholar   +1 more source

Footnotes : S.C. DHEC newborn screening newsletter [PDF]

, 2022
These publications will include helpful tips for specimen collection, submission, follow-up contact information for DHEC NBS staff, and an educational section on specific disorders found on the newborn screening ...
South Carolina Department of Health and Environmental Control
core