Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).

AIMS: Mice lacking pituitary adenylate cyclase-activating polypeptide (PACAP) are prone to sudden death in the second post-natal week, having respiratory and metabolic disturbances reminiscent of the human Sudden Infant Death Syndrome (SIDS). Here we test the hypothesis that the human PACAP gene is a site of genetic variance associated with SIDS in a cohort of 92 victims and 92 matched controls. METHODS: Using polymerase chain reaction and sequencing, we examined the PACAP gene in 92 SIDS cases (46 Caucasians and 46 African Americans) and 92 race- and gender-matched controls. RESULTS: We found no significant associations between PACAP and SIDS in Caucasians. However, in the African Americans, a non-synonymous single nucleotide polymorphism (i.e. an aspartic acid/glycine coding variant, rs2856966) within exon 2 of PACAP was significantly associated with SIDS (p = 0.004), as were haplotypes containing this polymorphism (p < 0.0001). Glycine was three times more likely at this location in the African-American SIDS victims (17 cases) than African-American controls (5 cases). CONCLUSION: These data are the first to suggest an association between a variant within the coding region of the PACAP gene and SIDS. Based on these findings, further investigations are warranted into the functional importance of PACAP signaling in neonatal survival and the role of PACAP-signaling abnormalities in SIDS.

Burn progression secondary to cardioversion.

Severe burns result in a profound hypermetabolic response. Catecholaminergic surges secondary to the burn injury itself, particularly if superimposed on premorbid cardiac disease, can result in cardiac arrhythmias. If unstable, these cardiac rhythm disturbances necessitate immediate cardioversion to regain normal sinus rhythm. Because of the high impedance at the skin-paddle interface, superficial cutaneous burns have been known to develop secondary to cardioversion. The authors describe a novel case of the subsequent local progression of a previously sustained superficial flame burn to full-thickness burn injury after cardioversion.