| pubmed-article:18579454 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18579454 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:18579454 | lifeskim:mentions | umls-concept:C0038644 | lld:lifeskim |
| pubmed-article:18579454 | lifeskim:mentions | umls-concept:C0004388 | lld:lifeskim |
| pubmed-article:18579454 | lifeskim:mentions | umls-concept:C1275808 | lld:lifeskim |
| pubmed-article:18579454 | lifeskim:mentions | umls-concept:C0851285 | lld:lifeskim |
| pubmed-article:18579454 | lifeskim:mentions | umls-concept:C0598429 | lld:lifeskim |
| pubmed-article:18579454 | pubmed:issue | 1-2 | lld:pubmed |
| pubmed-article:18579454 | pubmed:dateCreated | 2009-2-13 | lld:pubmed |
| pubmed-article:18579454 | pubmed:abstractText | Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) were long considered rare disorders of respiratory control and more recently have been highlighted as part of a growing spectrum of disorders within the rubric of autonomic nervous system (ANS) dysregulation (ANSD). CCHS typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of ANSD and, in a subset of cases, Hirschsprung disease and later tumors of neural crest origin. Study of genes related to autonomic dysregulation and the embryologic origin of the neural crest led to the discovery of PHOX2B as the disease-defining gene for CCHS. Like CCHS, SIDS is thought to result from central deficits in control of breathing and ANSD, although SIDS risk is most likely defined by complex multifactorial genetic and environmental interactions. Some early genetic and neuropathological evidence is emerging to implicate serotonin systems in SIDS risk. The purpose of this article is to review the current understanding of the genetic basis for CCHS and SIDS, and discuss the impact of this information on clinical practice and future research directions. | lld:pubmed |
| pubmed-article:18579454 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18579454 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18579454 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18579454 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18579454 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18579454 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18579454 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18579454 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:18579454 | pubmed:issn | 1569-9048 | lld:pubmed |
| pubmed-article:18579454 | pubmed:author | pubmed-author:Weese-MayerDe... | lld:pubmed |
| pubmed-article:18579454 | pubmed:author | pubmed-author:CeccheriniIsa... | lld:pubmed |
| pubmed-article:18579454 | pubmed:author | pubmed-author:Berry-KravisE... | lld:pubmed |
| pubmed-article:18579454 | pubmed:author | pubmed-author:RandCasey M... | lld:pubmed |
| pubmed-article:18579454 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18579454 | pubmed:day | 10 | lld:pubmed |
| pubmed-article:18579454 | pubmed:volume | 164 | lld:pubmed |
| pubmed-article:18579454 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18579454 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18579454 | pubmed:pagination | 38-48 | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:meshHeading | pubmed-meshheading:18579454... | lld:pubmed |
| pubmed-article:18579454 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18579454 | pubmed:articleTitle | Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. | lld:pubmed |
| pubmed-article:18579454 | pubmed:affiliation | Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614, USA. DWeese-Mayer@ChildrensMemorial.org | lld:pubmed |
| pubmed-article:18579454 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18579454 | pubmed:publicationType | Review | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:18579454 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:18579454 | lld:pubmed |
