1/7. osteogenesis imperfecta in a weightlifter.OBJECTIVE: To discuss the case of a 42-yr-old weightlifter with osteogenesis imperfecta. CLINICAL FEATURES: The patient had bilateral acute elbow pain and a previous history of more than 35 fractures of the spine and extremities. INTERVENTION: There is no current treatment for osteogenesis imperfecta. Treatment objectives were designed to minimize pain, improve range of motion, and decrease stress on the elbow joints. Nutritional supplementation was used to help maintain bone density. The elbow pain improved with treatment, and the patient has had no new fractures in the last 6 years. CONCLUSION: Although most patients with osteogenesis imperfecta are physically inactive because of the high risk of fracture, some patients with milder forms of the condition may be involved in some athletic activities. Although manipulation is contraindicated in patients with osteogenesis imperfecta, chiropractors may be of service by offering pain relief and rehabilitation, in addition to advice regarding nutrition and supplements.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Pseudomass of the sternal manubrium in osteogenesis imperfecta.Skeletal abnormalities such as hypertrophic callus formation and "popcorn" calcifications are rare radiological findings of osteogenesis imperfecta, causing tumor-like appearances on imaging. We report on a 7-year-old girl with osteogenesis imperfecta presenting with hepatomegaly and palpable lymphadenopathy in the left inguinal region on physical examination. Computed tomography examination revealed a high-density mass-like lesion of the manubrium sterni. ultrasonography and a lateral roentgenogram of the chest verified that this was a pseudomass caused by a bowed sternal manubrium.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. hypercalciuria in osteogenesis imperfecta type I.BACKGROUND: In osteogenesis imperfecta severity of disease and reduced physical activity have been considered the main factors contributing to hypercalciuria; however, its pathogenesis in osteogenesis imperfecta Type I, in which mobility is normal, is still unclear. PATIENT, methods AND RESULTS: We describe a patient with osteogenesis imperfecta Type I and hypercalciuria, in whom measurement of calcium intake, plasma 1 - 25(OH) (2) vitamin d, fasting calciuria and tubular proteinuria led us to exclude an absorptive or renal component in the pathogenesis of hypercalciuria. CONCLUSIONS: We believe that hypercalciuria is determined by bone disease in osteogenesis imperfecta Type I. This condition should be added to the causes of normocalcemic hypercalciuria in children and the mildest forms should be differentiated from Idiopathic hypercalciuria.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. Part 2. osteogenesis imperfecta.osteogenesis imperfecta (OI), the most common genetic disorder of bone, is characterized by frequent, unpredictable fractures of the long bones with progressive skeletal deformity. Often diagnosed in the early years of life, OI requires a comprehensive, interdisciplinary plan of care involving patient, family, and community. The nurse's role as caregiver, educator, and patient advocate is to foster normal physical and psychosocial growth and development and minimize the opportunity for fracture.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.We have examined the collagenous proteins extracted from skin and produced by skin fibroblast cultures from the members of a family with mild dominant osteogenesis imperfecta (OI type I). The two affected patients, mother and son, produce two populations of alpha 1(I) chains of type I collagen, one chain being normal, the other containing a cysteine within the triple-helical domain. Both forms can be incorporated into triple-helical molecules with an alpha 2(I) chain. When two mutant alpha (I) chains are incorporated into the same molecule, a disulfide bonded dimer is produced. We have characterized these chains by sodium dodecyl sulfate-gel electrophoresis and CNBr-peptide mapping and by measuring a number of biosynthetic and physical variables. The cysteine was localized to the COOH-terminal peptide alpha (I) CB6. Molecules containing the mutant chains are stable, have a normal denaturation temperature, are secreted normally, and have normal levels of post-translational modification of lysyl residues and intracellular degradation. We have compared and contrasted these observations with those made in a patient with lethal osteogenesis imperfecta in which there was a cysteine substitution in alpha 1(I) CB6 (Steinmann, B., Rao, V. H., Vogel, A., Bruckner, P., Gitzelmann, R., and Byers, P. H. (1984) J. Biol. Chem 259, 11129-11138) and have concluded that the mutation in the present family occurs in the X or Y position of a Gly-X-Y repeating unit of collagen and not in the glycine position shown for the previous patient (Cohn, D. H., Byers, P. H., Steinmann, B, and Gelinas, R. E. (1986) Proc. Natl. Acad. Sci. U. S. A., in press.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Use of play materials in treating a severely handicapped child.A 4-year-old boy with a physical handicap severe enough to preclude his manipulating materials, participated in a play intervention designed to help him to deal with some of his limitations. His skill in communicating to the therapist and in utilizing vicarious experiences allowed him to participate fully and successfully in therapy, although several modifications had to be made in the usual play procedures. The basic techniques of play therapy may therefore be of use to other motorically handicapped children who are capable of verbalizing and fantasizing. During the course of the therapy, this child also evidenced some unusual perceptions of the world. The lack of opportunity to have the customary sensorimotor experiences had apparently delayed his development of object permanence. This finding is consistent with Piaget's theory, which emphasized early motoric behaviours as prerequisites to later intellectual operations.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs.We report a girl with a unique combination of malformations, including recurrent fractures, mental retardation with extrapyramidal tract signs and minor facial abnormalities. Generalised osteoporosis with overtubulation of long bones was similar to that of osteogenesis imperfecta (OI). However, the short tubular bones were distinctively undertubulated and wormian bones were not found. Based on clinical, laboratory and neuroradiological examinations, it was less likely that bone fragility was attributable to disuse bone atrophy related to her physical handicap and the neurological abnormalities secondary to brain insult. She is presumed to have a previously undescribed OI-like syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |