No abstract

The lowering effect of physical exercise on intraocular pressure (IOP) has been reported both in healthy people and those with glaucoma, but a comparison of the lowering effect of isometric and isokinetic exercises on IOP has not been conducted in any study. Our aims were to investigate the relationship between intensity of exercise and IOP, and whether a significant difference in IOP lowering effect existed between isometric and isokinetic exercises. Sixty-seven patients with an age range of 23–40 who had no ocular disease were randomly divided into two groups. While 31 patients in the first group, group A, performed isokinetic exercise with the Cybex 6000 dynamometer, 32 patients in the second group, group B, had isometric exercises with the same machine. IOP was measured in the right eye of patients with Shiøtz tonometer just before and 10 min following exercise. Exercise intensity and total energy consumption were determined by the machine for each patient. While IOP values measured before exercise, the degree of exercise applied, and total energy consumption did not differ significantly between groups, both isometric and isotonic exercises lowered IOP significantly. As a result, isometric and isokinetic exercises lowered IOP in ophthalmologically normal subjects with direct relationship to exercise intensity and total energy consumption. Since the pressure lowering effect of isokinetic exercise was more significant, it might prove useful to glaucomatous patients.

Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in NPC1 or NPC2. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by NPC1 (NPC1) and 16 by NPC2 (NPC2) mutations. Extra-neuronal features were common; visceromegaly reported in 80/89 NPC1 and in 15/16 NPC2, prolonged jaundice in 30/89 NPC1 and 7/16 NPC2. Early lung involvement was present in 12/16 NPC2 cases. Median age of neurological onset was 12 (0–24) and 7.5 (0–24) months in NPC1 and NPC2 groups, respectively. Developmental delay and hypotonia were the commonest first detected neurological symptoms reported in 39/89 and 18/89 NPC1, and in 8/16 and 10/16 NPC2, respectively. Additional neurological symptoms included vertical supranuclear gaze palsy, dysarthria, cataplexy, dysphagia, seizures, dystonia, and spasticity. The following mutations in homozygous state conferred EIF: deletion of exon 1+promoter, c.3578_3591 + 9del, c.385delT, p.C63fsX75, IVS21-2delATGC, c. 2740T>A (p.C914S), c.3584G>T (p.G1195V), c.3478-6T>A, c.960_961dup (p.A321Gfs*16) in NPC1 and c.434T>A (p.V145E), c.199T>C (p.S67P), c.133C>T (p.Q45X), c.141C>A (p.C47X) in NPC2. This comprehensive analysis of the EIF type of NPC will benefit clinical patient management, genetic counselling, and assist design of novel therapy trials.