Talk:Neonatal Diagnosis

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Cite this page: Hill, M.A. (2024, April 19) Embryology Neonatal Diagnosis. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Neonatal_Diagnosis

10 Most Recent

Note - This sub-heading shows an automated computer PubMed search using the listed sub-heading term. References appear in this list based upon the date of the actual page viewing. Therefore the list of references do not reflect any editorial selection of material based on content or relevance. In comparison, references listed on the content page and discussion page (under the publication year sub-headings) do include editorial selection based upon relevance and availability. (More? Pubmed Most Recent)


Neonatal Diagnosis

<pubmed limit=5>Neonatal Diagnosis</pubmed>

Guthrie Test

<pubmed limit=5>Guthrie Test</pubmed>

2018

Screening for spinal muscular atrophy

Sampaio H, Wilcken B & Farrar M. (2018). Screening for spinal muscular atrophy. Med. J. Aust. , 209, 147-148. PMID: 30107765

Med J Aust. 2018 Aug 20;209(4):147-148.

Sampaio H1, Wilcken B2, Farrar M2. Author information KEYWORDS: Neuromuscular diseases PMID: 30107765

2012

2011

2010

Cystic fibrosis newborn screening

Com G. J Ark Med Soc. 2010 Mar;106(9):210-2. Review. PMID: 20337169

Cystic fibrosis (CF) is a life-threatening autosomal recessive disease and affects about 1 in 3500 newborns in the United States. In the last decade, advances to detect the disease include development of newborn screening. CF newborn screening is a complex process and diagnosing a newborn with CF sometimes can be challenging even for an expert. In this article, we briefly discuss the pathogenesis of cystic fibrosis followed by a discussion of the need to conduct newborn screening and the screening algorithm. Finally, healthcare providers are directed to contact information to learn more about diagnosing and treating cystic fibrosis in Arkansas. Cystic fibrosis is the result of a mutant gene located on chromosome 7; the gene product is named cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is located in the apical membranes of most of the cell lines and responsible for chloride ion conduction. In addition, CFTR influences the expression of several other gene products.


Lung maturation: the survival miracle of very low birth weight infants

Jobe AH. Pediatr Neonatol. 2010 Feb;51(1):7-13. Review. PMID: 20225532