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2014 1
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2018 50
2019 60
2020 11
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221 results
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Page 1
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 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: 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 …
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 …
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
The Current State of Newborn Screening in the United States.
Fabie NAV, Pappas KB, Feldman GL. Fabie NAV, et al. Pediatr Clin North Am. 2019 Apr;66(2):369-386. doi: 10.1016/j.pcl.2018.12.007. Pediatr Clin North Am. 2019. PMID: 30819343 Review.
They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some ethical issues related to newborn screening. Finally, new disorders being considered for testing and new technologies that may …
They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some e …
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 for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM. Puck JM. Immunol Rev. 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. Immunol Rev. 2019. PMID: 30565242 Free PMC article. Review.
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening te …
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newbor
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
Immediate treatment with Nusinersen was recommended in children with 2 and 3 SMN2 copies and a conservative strict follow-up strategy in children with ≥4 copies. All children underwent regular standardized neuropediatric examination, CHOP INTEND and HINE-2 testing a …
Immediate treatment with Nusinersen was recommended in children with 2 and 3 SMN2 copies and a conservative strict follow-up strategy …
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 …
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