Pyridoxine responsiveness in novel mutations of the PNPO gene.

Objective: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations.

Methods: We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria.

Results: We were able to identify 11 patients carrying 3 novel mutations of the PNPO gene.

Exercise capacity and exercise hypertension after surgical repair of isolated aortic coarctation.

There are contradictory reports whether exercise capacity is reduced in patients on long-term follow-up after coarctation repair. Data from unselected patient groups are missing. In a cross-sectional, long-term follow-up study of a tertiary congenital cardiology referral center, 260 patients (30.

Coarctation Long-term Assessment (COALA): significance of arterial hypertension in a cohort of 404 patients up to 27 years after surgical repair of isolated coarctation of the aorta, even in the absence of restenosis and prosthetic material.

Objective: Recent studies have demonstrated that there is a loss of aortic compliance in patients after coarctation repair. The clinical effect of this and other mechanisms apart from restenosis on the rate of arterial hypertension is unknown.

Methods: From 1974 through 2000, 404 patients born before January 1, 1985, underwent surgical intervention for isolated aortic coarctation.