Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To evaluate the influence of prematurity and postnatal age on the relationship between motor activity (MA) and sleep states, forty clinically and neurologically normal infants were recorded polygraphically and grouped according to their gestational (GA, prematures: < 36 weeks, full-term: 37-41 weeks) and conceptional (CA, 37-38 and 39-41 weeks) ages. Sleep states (active: AS, and quiet: QS) were defined by the concordance of EEG and rapid eye movement criteria. Movements of both upper (UL) and lower (LL) limbs were independently recorded. In all groups the amount of MA in both UL and LL clearly predominated in AS compared with QS (p < 0.02). Contrariwise, both the longest period without movement and the no-movement 20-sec epochs were significantly higher in QS than in AS (p < 0.005). In AS, age-related modifications and modulation of MA amount throughout the state were similar for PRT and FT groups: a) in both groups a significant decrease of MA with advancing CA was observed (p < 0.05); b) MA throughout the state was randomly distributed regardless of CA. In QS, however, PRT were distinguishable from FT by the absence of: a) a significant decrease of MA amount with advancing CA, together with a reduced increase of both the longest period without movements and the no-movement 20-sec epochs; b) prevalence of MA in LL compared with UL; c) modulation of the distribution of MA throughout the state.
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PMID:Modulation of motor activity patterns and sleep states in low-risk prematurely born infants reaching normal term: a comparison with full-term newborns. 779 54

Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant newborns have a taut, shiny, non-expandable epidermis that resembles cornified manifestations of autosomal-recessive congenital ichthyosis in humans. The skin is stretched so tightly that the newborn mice are immobilized. The genetic defect was mapped to a region near the proximal end of chromosome 2 by SNP analysis, suggesting Fatp4/Slc27a4 as a candidate gene. FATP4 mutations in humans cause ichthyosis prematurity syndrome (IPS), and mutations of Fatp4 in mice have previously been found to cause a phenotype that resembles human congenital ichthyoses. Characterization of the Fatp4 cDNA revealed a fusion of exon 8 to exon 10, with deletion of exon 9. Genomic sequencing identified an A to T mutation in the splice donor sequence at the 3'-end of exon 9. Loss of exon 9 results in a frame shift mutation upstream from the conserved very long-chain acyl-CoA synthase (VLACS) domain. Histological studies revealed that the mutant mice have defects in keratinocyte differentiation, along with hyperproliferation of the stratum basale of the epidermis, a hyperkeratotic stratum corneum, and reduced numbers of secondary hair follicles. Since Fatp4 protein is present primarily at the stratum granulosum and the stratum spinosum, the hyperproliferation and the alterations in hair follicle induction suggest that very long chain fatty acids, in addition to being required for normal cornification, may influence signals from the stratum corneum to the basal cells that help to orchestrate normal skin differentiation.
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PMID:A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis. 2322 40