Showing papers by "Joan C. Marini published in 1995"
TL;DR: The clinically important neurlogic complications in 76 patients with OI seen at the NIH included brainstem compression from basilar invagination, skull fracture, and seizure disorders and continued study of the underlying pathophysiology of neurologic features in OI is warranted.
Abstract: The clinically important neurlogic complications in 76 patients with OI seen at the NIH included brainstem compression from basilar invagination, skull fracture, and seizure disorders. Neuroimaging studies demonstrated sulcal prominence and ventriculomegaly consistent with communicating hydrocephalus in 17 patients. Basilar invagination was found in 8 individuals, all with clinically severe OI, and caused brain-stem compression in 3 patients. Head circumference growth showed abnormal kinetics with percentile crossing after fontanelle closure in 13 patients and absolute macrocephaly was present in 11 patients. Neurologic evaluation should be part of a team approach in the management of patients with severe OI types. Continued study of the underlying pathophysiology of neurologic features in OI is warranted.
11 citations
TL;DR: The Spearman rank-order correlation test has been used to measure the fractional rate of loss of tracer, q, from blood into bone ((1/q)(dq/dt) = −γ/t) as mentioned in this paper.
11 citations
TL;DR: The results of the evaluation of the growth hormone axis in 28 children with short stature and OI and of the pilot study to stimulate OI bone to increased growth rates are reviewed.
Abstract: Growth deficiency is the most common secondary feature of osteogenesis imperfecta. It is unrelated to fracture history and appears to be due to the growth failure of the defective bony matrix. There are characteristic growth curves for different types of OI. We have been investigating the endocrine features of this disorder, in which the skeletal target tissue synthesizes defective matrix. We review the results of our evaluation of the growth hormone axis in 28 children with short stature and OI and of our pilot study to stimulate OI bone to increased growth rates. Our current focus is on the effect of growth hormone treatment on linear growth, bony mineral and bony matrix in OI.
4 citations
TL;DR: For a group of 7 healthy children, ages 4-14, and 7 children with osteogenesis imperfecta, types I, III and IV, ages 6-17, there were no detectable differences in the fractional absorption of dietary calcium.
Abstract: Stable isotopic tracers of calcium have been used to characterize the absorption of dietary calcium and the subsequent distribution of this element through the body. For a group of 7 healthy children, ages 4-14, and 7 children with osteogenesis imperfecta (OI), types I, III and IV, ages 6-17, there were no detectable differences in the fractional absorption of dietary calcium, 0.29+/-0.11 and 0.28+/-0.16, respectively. The total exchangeable pool of calcium was found to be 161+/-52 mg/kg for the healthy children and 95+/-29 mg/kg for the 3 children with Type I OI, 250+/-75 mg/kg for the 3 children with Type III OI and 216 mg/kg for the child with Type IV OI.
3 citations
2 citations