Coffin-Lowry syndrome is an X-linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In one patient with the syndrome, we observed early recurrent episodes of congestive heart failure with intercurrent normalization and the late development of mitral insufficiency due to annular dilation and congenital abnormalities of the valve apparatus. This unusual course of cardiac involvement, the non-adaptation of the left ventricular contractility to the aggravation of the mitral insufficiency and the postoperative persistence of the ventricular dysfunction, underline the possible role of an associated primary myocardial disease. This clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.
Health benefits of a physically active lifestyle are well documented. We therefore investigated the physical activity patterns of 200 children from Liège. They were monitored continuously using a 24-hour Holter monitoring system during normal weekdays and the percentage of heart rate reserve (%HRR) was used to measure the amounts of physical activity at different intensities. Preschool children attained 184.3+/-54.2, 40.7+/-16.1, 15.8+/-6.9 and 6.0+/-7.2 minutes/day (mean+/-SD) between 20% to 40%, 40% to 50%, 50% to 60%, and greater than 60% of HRR, respectively. At the same %HRR intensities, schoolchildren attained 165.6+/-74.6, 32.1+/-12.1, 15.8+/-6.7 and 7.0+/-5.9 minutes/day, and teenagers attained 159.2+/-68.3, 32.1+/-23.5, 13.1+/-6.0 and 6.1+/-6.3 minutes/day. Age was a significant predictor of the intercept and slope of the time spent in physical activity and %HRR relationship. In Liège the average youth accumulates +/-30 to 40 minutes/day of moderate-intensity physical activity and +/-20 minutes/day of high-intensity physical activity. Those children meet the classical revised guidelines for physical activity but do not compare favourably with children from elsewhere. On the other hand, they get more than 2 1/2 to 3 hours/day of low-intensity physical activity. Our findings suggest that children from Liège are not engaged in sedentary behaviour but do not experience the ideal amount and type of physical activity classically believed to benefit the cardiopulmonary system. Public health strategies should be adapted to our findings.
Coffin‐Lowry syndrome is an X‐linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In one patient with the syndrome, we observed early recurrent episodes of congestive heart failure with intercurrent normalization and the late development of mitral insufficiency due to annular dilation and congenital abnormalities of the valve apparatus. This unusual course of cardiac involvement, the non‐adaptation of the left ventricular contractility to the aggravation of the mitral insufficiency and the postoperative persistence of the ventricular dysfunction, underline the possible role of an associated primary myocardial disease. This clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.
We have retrospectively studied the intraoperative and early postoperative complications of 466 radial keratotomies. These complications included: microperforations and macroperforations, incisions into the optical zone, and early bacterial corneal ulcers and endophthalmitis. [Refract Corneal Surg 1992;8:215-216.)
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