A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.

Background: Disease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In addition, the correlation between genotypes and phenotypes remains a challenge, in part due to the large number of mutations linked to TSC.

Uhl's anomaly: a difficult prenatal diagnosis.

Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. The most difficult differential diagnosis at presentation is the Ebstein disease. We describe the evolution of a foetus with Uhl's anomaly from 21 to 30 weeks of gestation, with progressive reduction in the right ventricular anterior myocardium suggestive of apoptosis, leading to foetal demise.

Implanting telehealth network for paediatric cardiology: learning from the Quebec experience.

The implementation committee of the Quebec Child Telehealth Network was formed in 1997, with a mandate to build a network dedicated to the diagnosis of congenital cardiac disease via telemedicine. We devised criterions for selection to determine which peripheral centres would be linked by telemedicine to the university-based services for paediatric cardiology provided in the Canadian Province of Quebec. The criterions included: distance from a university centre, number of births per year, and presence of an already-established outreach clinic for paediatric cardiology.

A cost-effectiveness analysis of interactive paediatric telecardiology.

We analysed the cost-effectiveness of a teleconsultation service after five years of operation. The service provides diagnostic consultation at a distance for children suffering from cardiac pathologies. A retrospective study was performed with all 78 infants who had received a paediatric cardiology teleconsultation over a four-year period from January 1998.