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Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G. Ombrone D, et al. Mass Spectrom Rev. 2016 Jan-Feb;35(1):71-84. doi: 10.1002/mas.21463. Epub 2015 May 7. Mass Spectrom Rev. 2016. PMID: 25952022 Review.
Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. ...Today the use of MS/MS for second-tier tests and confirmatory testing i …
Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and s …
Screening Examination of Premature Infants for Retinopathy of Prematurity.
Fierson WM; AMERICAN ACADEMY OF PEDIATRICS Section on Ophthalmology; AMERICAN ACADEMY OF OPHTHALMOLOGY; AMERICAN ASSOCIATION FOR PEDIATRIC OPHTHALMOLOGY AND STRABISMUS; AMERICAN ASSOCIATION OF CERTIFIED ORTHOPTISTS. Fierson WM, et al. Pediatrics. 2018 Dec;142(6):e20183061. doi: 10.1542/peds.2018-3061. Pediatrics. 2018. PMID: 30478242 Free article. Review.
This statement presents the attributes of an effective program to detect and treat ROP, including the timing of initial and follow-up examinations....
This statement presents the attributes of an effective program to detect and treat ROP, including the timing of initial and follow-up …
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, Kwon JM, Lam WK, Ojodu J, Prosser LA, Tanksley S. Kemper AR, et al. Genet Med. 2017 Jan;19(1):121-126. doi: 10.1038/gim.2016.68. Epub 2016 Jun 23. Genet Med. 2017. PMID: 27337030 Free PMC article.
The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. ...Significant challenges exist for implementin …
The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be a …
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. Glascock J, et al. J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304. J Neuromuscul Dis. 2018. PMID: 29614695 Free PMC article.
OBJECTIVE: To develop a treatment algorithm for SMA-positive infants identified through newborn screening based upon SMN2 copy number. METHODS: A working group comprised of 15 SMA experts participated in a modified Delphi process, moderated by a neutral third-party …
OBJECTIVE: To develop a treatment algorithm for SMA-positive infants identified through newborn screening based upon SMN2 copy number …
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
Only one infant had transitory elevation of urine glycosaminoglycans (GAGs) (by quantitative analysis) and she is in follow-up at the time of writing. In the North East Italy experience, there was one affected newborn for 66,491 screened. In this patient treatment s …
Only one infant had transitory elevation of urine glycosaminoglycans (GAGs) (by quantitative analysis) and she is in follow-up at the …
Newborn screening for cystic fibrosis.
Castellani C, Massie J, Sontag M, Southern KW. Castellani C, et al. Lancet Respir Med. 2016 Aug;4(8):653-661. doi: 10.1016/S2213-2600(16)00053-9. Epub 2016 Apr 1. Lancet Respir Med. 2016. PMID: 27053341 Review.
Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first recognised, the performance of newborn blood spot screening (NBS) has been continually assessed and its use has …
Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was …
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Amatuni GS, et al. Pediatrics. 2019 Feb;143(2):e20182300. doi: 10.1542/peds.2018-2300. Pediatrics. 2019. PMID: 30683812 Free PMC article.
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Abnormal TRE …
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 ye …
Newborn Screening: Beyond the Spot.
Urv TK, Parisi MA. Urv TK, et al. Adv Exp Med Biol. 2017;1031:323-346. doi: 10.1007/978-3-319-67144-4_19. Adv Exp Med Biol. 2017. PMID: 29214581 Review.
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood morbidity and mortal …
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hour …
Neonatal Thyroid Disease: Testing and Management.
Kaplowitz PB. Kaplowitz PB. Pediatr Clin North Am. 2019 Apr;66(2):343-352. doi: 10.1016/j.pcl.2018.12.005. Epub 2019 Jan 28. Pediatr Clin North Am. 2019. PMID: 30819341 Review.
"Thyroid dysfunction that requires prompt diagnosis and treatment often becomes evident in the newborn period because of testing that is done as part of universal newborn screening. ...However, many of the abnormal thyroid test results are less abnormal and d …
"Thyroid dysfunction that requires prompt diagnosis and treatment often becomes evident in the newborn period because of testing
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium. Orsini JJ, et al. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590
New York State (NYS) implemented newborn screening for KD in 2006. METHODS: Dried blood spots from newborns were assayed for GALC enzyme activity using mass spectrometry, followed by molecular analysis for those with low activity (≤12% of the daily mean). Infants wi …
New York State (NYS) implemented newborn screening for KD in 2006. METHODS: Dried blood spots from newborns were assayed for G …
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