Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA site of two individuals with NF1 was used for immunohistochemical characterization and genotype analysis of the NF1 locus. Typical immunohistochemical features of neurofibroma were not observed. Genotype analysis of PA tissue with use of four genetic markers (D17S1863, GXALU, IN38, and 3NF1-1) spanning the NF1 locus demonstrated loss of heterozygosity. These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1.
Because periprosthetic bone loss impacts revision total hip arthroplasties and subsequent patient recovery, it is important to understand the consequences of stress shielding. We characterized bone loss attributed to stress shielding by investigating the influence of patient activity and demographics on reductions in cortical bone cross-sectional area, bone mineral density, and bone mineral content. Cortical bone shape, bone mineral content, and bone mineral density were measured in implanted and contralateral nonimplanted cadaveric femurs. Geometric measurements of transverse cross sections were measured with imaging software. Dual energy x-ray absorptiometry measured bone mineral content and bone mineral density. Patient activity was estimated by the mechanical usage score. The mechanical usage score was comprised of the ambulatory components of the Harris hip score. Regression analysis revealed a lower mechanical usage score and patient weight correlated with greater bone loss. Age, implant size, and time in situ did not correlate to bone loss. The implanted femurs were reduced in cross-sectional area and rigidity, and expanded endosteally and periosteally. Principal axis location did not change. Bone loss was more likely to occur uniformly than to change cortical bone distribution. Bone loss was minimized in patients with higher activity levels.
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