ABSTRACT
Spondylo-epi-metaphyseal dysplasias [SEMD] are a heterogeneous group of skeletal disorders characterized by defective growth and modeling of the spine and long bones. Different types are described in the literature. Accurate classification of SEMDs is essential for proper genetic counseling. This study included 20 cases of SEMDs diagnosed by clinical and radiological findings. Cases were classified based on additional associated clinical and/or radiological features into 7 subtypes. Different subtypes were discussed with review of the literature. The study illustrated the heterogeneity of SEMDs and emphasized the importance of detailed and meticulous clinical genetic and biochemical evaluation in addition to comprehensive radiological investigations for such group of disorders. It also recommends further molecular studies to identify the molecular bases of the different types
Subject(s)
Humans , Male , Female , Bone Diseases, Developmental/diagnosis , Anthropometry , Glycosaminoglycans/urine , Galactosemias/blood , Intelligence Tests , Abdomen/diagnostic imaging , Calcium/blood , Phosphorus/blood , Alkaline Phosphatase/blood , EchocardiographyABSTRACT
Effect of twice daily administration of aspirin eyedrops on the onset and progression of cataract induced by 30% galactose diet was studied. On the 30th day of galactose feeding while all control group rats showed complete stage IV opacity, those receiving aspirin eyedrops showed only mild cataractous changes of stage I. In vitro studies showed that addition of aspirin to the medium significantly decreased dulcitol formation (p < 0.01) and maintained glutathione levels (p < 0.02). Intraocular penetration studies using isolated goat cornea showed excellent penetration by salicylate indicating feasibility of topical administration. The results of the present study demonstrate that topical aspirin possesses significant anticataract activity in galactosemic cataract.