Pain relief for the removal of femoral sheath in interventional cardiology adult patients.

Background: There is considerable variation in use of pain relief for managing pain or discomfort of femoral sheath removal. Efficacy of pain relief to promote comfort during this procedure or to reduce the incidence of vascular and procedural complications has not been established.

Objectives: Assess efficacy of pain relief used to manage pain of femoral sheath removal in adults after interventional cardiology.

Characterization of a recurrent 15q24 microdeletion syndrome.

We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size).

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Silver-Russell syndrome (SRS) is characterised by pre- and postnatal growth restriction (PNGR) and additional dysmorphic features including body asymmetry and fifth finger clinodactyly. The syndrome is genetically heterogeneous, with a number of chromosomes implicated. However, maternal uniparental disomy for chromosome 7 has been demonstrated in up to 10% of all cases.