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Biomedical subjects

G Fabry

Publications and source records attributed to G Fabry.

227 records · Page 13Linked to original sources

Biochemical analyses in osteoarthritis of the hip: a correlative study between glycosaminoglycan loss, enzyme activity and radiologic signs.

This article describes a correlative study between biochemical analyses and radiologic signs in 90 hips with osteoarthritis (OA) removed at operation. On the basis of possible etiologic considerations, the hips are separated into three groups: mechanically induced OA; OA with mainly inflammatory signs; OA in which neither of the two above factors are clearly present. Respective findings of glycosaminoglycan loss, and enzyme activity in cartilage and synovia demonstrate that in mechanically induced OA the glycosaminoglycan loss is less than in inflammatory OA. In the latter, the enzyme activity level is higher than in the former group, suggesting that two important factors in cartilage degradation are represented differently in osteoarthritis. In individual patients, X-ray examination alone may be sufficient to identify the etiologic group. Body weight is an important etiologic factor; heavy individuals show a greater loss of ground substance, with less enzyme activity compared with individuals weighing 70 kg or less.

Cathepsins↗

Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. The data are compared to other serine substitutions in collagen type I. Findings show that the phenotypic severity of serine for glycine substitutions in the alpha2(I) collagen chain is region dependent similar to the observations for the alpha1(I) collagen chain, and that so-called 'lethal' and 'non-lethal' domains in the alpha1 and alpha2 collagen chains do not necessarily correspond.

Adult↗

Kinematic and kinetic asymmetry in patients with leg-length discrepancy.

The symmetry index (SI), as one of methods to evaluate gait pattern in patients with leg-length discrepancy (LLD), helps to estimate the acceptable range of inequality and to determine symmetry in the kinematic and kinetic data before and after a heel lift, although this parameter has a large standard deviation that undermines its accuracy. Thirty patients with LLD were studied by a motion-analysis system and a force plate. Joint motion of the lower extremity in the sagittal plane, back movement in the coronal plane, and three-dimensional ground-reaction forces (GRFs) were registered. From a linear-regression analysis, a mean value of inequality of 2.33 cm (range, 2.12-2.54) was found to correspond to an acceptable gait symmetry. After a heel lift, the SI of the pelvic tilt at midstance and of the vertical GRF at initial contact increases significantly, but the SI of the medial GRF at terminal stance decreases. Patients with an inequality of a mean value of 0.51 cm determined by palpating bilaterally the top of the iliac crest (the TIC1 subgroup) showed a lesser value of the SI of the center of pressure in the forward direction during stance compared with the group with a mean value of inequality of 1.39 cm (the TIC2 subgroup). As a result of our findings, we conclude that the effect of the amount of correction by a heel lift on gait symmetry is unpredictable.

Adolescent↗