Successful modified implantation of insertable cardiac monitor in a very young paediatric patient.

Insertable cardiac monitors are minimally invasive devices designed for implantation in the chest wall of patients to record heart rhythms and relate them to symptoms over prolonged periods. The Jot Dx™ (Abbott Laboratories, Abbott Park, IL, USA) is the latest Food and Drug Administration-cleared insertable cardiac monitor that is Bluetooth™ enabled allowing for near-immediate transmission of data from patients to physicians. We report on the first paediatric patient, in a patient weighing 11.

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.

The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs.