Is specific testing for `` isolated '' anti-52 kDa SSA/Ro antibodies during standard anti-extractable nuclear antigen testing of limited clinical value?
"Isolated" anti-52 kDa SSA/Ro antibodies were detected in approximately 0.5% of standard anti-ENA requests, in which their presence was generally not associated with underlying SS or SLE. In view of the increased testing complexity and costs in detecting and confirming these antibodies, specific testing for isolated a-SSA Ro52 antibodies during standard anti-ENA testing seems to be of limited clinical value in a non-obstetric population.
We identified a family with BrS and an SCN5A mutation in a PKA consensus phosphorylation site. The BrS mutation R526H is associated with a reduction in the basal level of INa and a failure of PKA stimulation to augment the current that may contribute to the predisposition to arrhythmias in patients with BrS, independent of the precipitants.