RESUMO
Blunt cardiac injury is caused by large deceleration forces seen in motor vehicle accidents and can range from non-life-threatening arrhythmias to potentially fatal cardiac conditions such as valve disruption. A 28-year-old man presented following a motor vehicle accident involving direct blunt-force chest trauma. He developed papillary muscle rupture resulting in mitral valve dysfunction. Diagnosis was delayed due to concomitant chest pathology. Diagnosis of cardiac valvular injuries may be difficult due to concomitant injuries in a trauma patient. Though rare, papillary muscle rupture should be included in the differential diagnosis following blunt thoracic trauma, particularly involving persistent hypoxemia.
RESUMO
Previously, we have reported linkage of markers from chromosome 1q22 to schizophrenia, a finding supported by several independent studies. We have now examined the region of strongest linkage for evidence of linkage disequilibrium (LD) in a sample of 24 Canadian familial-schizophrenia pedigrees. Analysis of 14 microsatellites and 15 single-nucleotide polymorphisms (SNPs) from the 5.4-Mb region between D1S1653 and D1S1677 produced significant evidence (nominal P<.05) of LD between schizophrenia and 2 microsatellites and 6 SNPs. All of the markers exhibiting significant LD to schizophrenia fall within the genomic extent of the gene for carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (CAPON), making it a prime positional candidate for the schizophrenia-susceptibility locus on 1q22, although initial mutation analysis of this gene has not identified any schizophrenia-associated changes within exons. Consistent with several recently identified candidate genes for schizophrenia, CAPON is involved in signal transduction in the NMDA receptor system, highlighting the potential importance of this pathway in the etiology of schizophrenia.
