Cornelia de Lange syndrome: parental preferences regarding the provision of medical information.

We surveyed 57 caregivers of children with Cornelia de Lange syndrome (CdLS) using a self-report questionnaire designed to elicit their experiences with receiving information regarding health complications associated with this multisystem disorder. Their most frequent sources of information at the time of diagnosis were a health care provider (86%) and the CdLS Foundation (72%). Although most caregivers (82%) indicated a desire to receive information about all possible CdLS related health complications, on average they recalled receiving information on only 64% of their child's current or future health complications.

Stimulatory and inhibitory protein kinase C consensus sequences regulate the cystic fibrosis transmembrane conductance regulator.

Protein kinase C (PKC) phosphorylation stimulates the cystic fibrosis transmembrane conductance regulator (CFTR) channel and enhances its activation by protein kinase A (PKA) through mechanisms that remain poorly understood. We have examined the effects of mutating consensus sequences for PKC phosphorylation and report here evidence for both stimulatory and inhibitory sites. Sequences were mutated in subsets and the mutants characterized by patch clamping.