Concordant metaphyseal dysostosis type Schmid in twins.
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Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.
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The alteration of mineral content in the femoral metaphysis of rats with skeletal unloading was investigated using a model of hindlimb suspension. Animals were fed for 4 days during the unloading. The femoral length, femoral dry weight and femoral mineral density were significantly decreased by the unloading. The calcium, phosphorus and zinc contents in the femoral metaphysis were appreciably reduced by the unloading, although, except for zinc, similar decreases were not seen in the femoral diaphysis. Moreover, the trabecular bone at the femoral metaphysis was clearly reduced by the unloading. Skeletal unloading caused a decrease in osteoid tissue in the primary and secondary spongiosa, indicating that osteoblastic bone formation may be inhibited. The present results clearly demonstrate that skeletal unloading can induce bone loss in the femoral metaphysis.
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JMC is a rare autosomal dominant form of short limb dwarfism characterized by asymptomatic hypercalcemia and skeletal deformities, despite low PTH and PTHrP levels. This rare disorder is likely to be caused by activating mutations in the PTH/PTHrP receptor leading to ligand-independent cAMP accumulation. The analysis of genetically altered mice which lack either PTHrP or the PTH/PTHrP receptor, as well as of transgenic mice in which the mutant receptor is targeted to the growth plate, has provided a molecular explanation for the severe skeletal abnormalities seen in JMC. In addition, the study of this rare human disorder has further elucidated the fundamental role played by the PTH/PTHrP receptor in mediating both the paracrine/autocrine actions of PTHrP in growth plate development and bone elongation, as well as the endocrine actions of PTH. The insight gained from the study of this human disease model is likely to continue to provide an important tool to define the cellular and molecular mechanisms that mediate the biological roles of the PTH, PTHrP and their receptor.
The treatment of pilon fractures and distal metaphysial tibia fractures demands very high standards on the osteosynthesis material regarding the soft tissue and the essential joint reconstruction. The selection of the surgical entrance, particularly in case of a critical arterial or venous circulation and the possible irritation of the soft tissue caused by the osteosynthesis material led us to search for alternative osteosynthesis methods. After the elaboration of a pre-clinical study and good first results in the treatment of patella, olecranon and ankle joint fractures by means of the XS-nail the latter is now also employed for pilon fractures. Within a time period of 8 month 5 fibula fractures coming with pilon fractures had been treated with the XS-nail. This case report will demonstrate both the technique of treatment and the flexibility of the new implant.
The most frequent localization of fractures in elderly patients are the metaphysis of the distal radius, the metaphysis of the proximal humerus and the metaphysis of the proximal femur. Displaced fractures of the distal radius should be reduced anatomically with a broad indication for surgery. A unilateral frame is the method of choice in multi-fragmentary and articular fractures although this procedure carries some disadvantages. Displaced proximal fractures of the head of the humerus should be reduced and fixed operatively. Minimal invasive procedures like tension band fixation lead to better results than fixation with plates. Non-reducible four-part fractures require primary prosthetic replacement. If standard procedures in the treatment of distal fractures of the humerus fail because of severe osteoporosis, tension band fixation may allow functional post-operative treatment. Fractures of the trochanteric region of the femur can be stabilized by several dynamic standard implants that permit early weight bearing. If fixations should fail, corrective osteotomies or changing of implants--in rare cases combined with bone cement--may be necessary. Each case requires an individualized procedure in order to ensure optimal restoration of function and mobility in elderly patients.
The efficacies of two different allografts, Grafton (demineralized bone matrix [DBM] in a glycerol carrier) and Orthoblast (DBM in a reverse thermal poloxamer carrier) were examined from cases involving periarticular fractures. Demographic, perioperative, and outcome data for patients with periarticular fractures who underwent a prospectively designed protocol for bone grafting were compiled, with 15 cases using Orthoblast and 13 using Grafton. A successful graft was defined as healing on the first graft attempt without complications. Healing was determined by radiographic studies and clinical evaluation. The successful graft rates of Orthoblast and Grafton were 15/15 and 9/13, respectively.