Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.
Adult ; Amino Acid Substitution ; Camurati-Engelmann Syndrome/*diagnosis/radiography ; DNA Mutational Analysis ; Diaphyses/radiography ; Heterozygote ; Humans ; Korea ; Male ; Muscle Weakness/radiography ; Pedigree ; Transforming Growth Factor beta1/*genetics

PURPOSE: The purpose of this study was to evaluate the usefulness of MR imaging of pathologic fractures of the long bones. MATERIALS AND METHODS: In 18 patients aged between four and 75 (mean, 25.8) years with histologically confirmed pathologic fractures of the long bones, plain radiographs and MR images were retrospectively analyzed. The former were examined with regard to location and type of fracture, and the presence or absence of underlying disease causing fracture; and the latter in terms of underlying disease, extraosseous mass formation, and soft tissue change. RESULTS: The long bones involved were the femur in nine patients, the humerus in six, and the tibia in three. Underlying diseases were metastatic tumor (n=6), benign bone tumor (n=5), primary malignant bone tumor (n=4), osteomyelitis (n=2), and eosinophilic granuloma (n=1). Plain radiographs showed the fracture site as the metaphysis in ten cases, the diaphysis in five, and the metadiaphysis in one. Fractures were either transverse (n=10), oblique (n=3), spiral (n=1), vertical (n=1), or telescopic (n=1). In two cases, the fracture line was not visible. MR images revealed underlying diseases in all cases. A solid mass was present in all cases of malignant bone tumor, and an extraosseous mass in five such cases. Two benign bone tumors took the form of a cystic mass, two were a cystic mass containing an enhanced solid portion, and one was a solid mass. A soft tissue hematoma was seen in three cases. CONCLUSION: Where pathologic fracture of a long bone had occurred, or a pathologic fracture in which the findings of plain radiography were equivocal, MR imaging was useful for evaluating the pattern and extent of an underlying lesion.
Diaphyses ; Eosinophilic Granuloma ; Femur ; Fractures, Spontaneous* ; Hematoma ; Humans ; Humerus ; Magnetic Resonance Imaging* ; Osteomyelitis ; Radiography ; Retrospective Studies ; Tibia

PURPOSE: The authors have observed a failure to achieve secure fixation in elderly patients when inserting a half-pin at the anteromedial surface of the tibia. The purpose of this study was to compare two methods for inserting a half-pin at tibia diaphysis in elderly patients. MATERIALS AND METHODS: Twenty cadaveric tibias were divided into Group C or V. A half-pin was inserted into the tibias of Group C via the conventional method, from the anteromedial surface to the interosseous border of the tibia diaphysis, and into the tibias of Group V via the vertical method, from the anterior border to the posterior surface at the same level. The maximum insertion torque was measured during the bicortical insertion with a torque driver. The thickness of the cortex was measured by micro-computed tomography. The relationship between the thickness of the cortex engaged and the insertion torque was investigated. RESULTS: The maximum insertion torque and the thickness of the cortex were significantly higher in Group V than Group C. Both groups exhibited a statistically significant linear correlation between torque and thickness by Spearman's rank correlation analysis. CONCLUSION: Half-pins inserted by the vertical method achieved purchase of more cortex than those inserted by the conventional method. Considering that cortical thickness and insertion torque in Group V were significantly greater than those in Group C, we suggest that the vertical method of half-pin insertion may be an alternative to the conventional method in elderly patients.
Aged ; Aged, 80 and over ; *Bone Nails ; Bone Screws ; Diaphyses/radiography/surgery ; *External Fixators ; Female ; Humans ; Male ; Tibia/radiography/*surgery ; *Torque ; X-Ray Microtomography

Adult ; Aged ; Aged, 80 and over ; Bone Cements ; Bone Neoplasms ; diagnostic imaging ; surgery ; Diaphyses ; diagnostic imaging ; pathology ; surgery ; Female ; Humans ; Limb Salvage ; methods ; Male ; Middle Aged ; Radiography ; Treatment Outcome

Adult ; Bone Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Diagnosis, Differential ; Diaphyses ; diagnostic imaging ; pathology ; Humans ; Knee Joint ; diagnostic imaging ; pathology ; Lipoma ; diagnosis ; diagnostic imaging ; pathology ; Magnetic Resonance Imaging ; Male ; Radiography ; Tibia ; diagnostic imaging ; pathology

Shortening and angular deformities in children are one of important orthopedic management problem. Conceptually, lengthening of the short side in treatment of limb length inequality is, in most instance, the most attractive approach to this problem. Throughout the evolution of lengthening procedures, the method that has remained most consistently acceptable is osteotomy followed by gradual distraction. However, the idea of increasing the length of or modifying the axis of s bone during growth by means of distraction of the grwoth plate is relatively new. Recently, Monticelli and Spinelli have had experience with a new and novel method of lower limb lengthening by physeal distraction. We have studied the results of effect of distraction epiphysiolysis and the use of nonsteroidal anti-inflammatory agents to impede bone bridge as well as premature epiphyseal closure. There are some reports in which indomethacin could prevent reformation of a bone bridge between the epiphysis and metaphysis without inhibiting normal growth and bone remodeling. For this study, a total of 30 rabbits with an initial weight of about 600 gram was used. At operation two K-wires(l.lmm in diameter) were drilled percutaneously on parallel trscks through the epipaysis and diaphysis of proximal tibia. Epiphyseal distraction of Turnbuckle type designed at our school was applied on each side of K-wire insertion at the tibia. The correct position of pin was confirmed by radiography and the rate of distraction is 0.5–1mm per day. Distrsction was continued for 3–6 weeks and radiographs was taken every 2 weeks. Some rabbits was sacrified sfter removal of distractor. Through these examination, following results were obtained. 1. Seperation of the epiphysis from the metaphysis occurred after average 3 days, and it always occurred in the zone of provisional calcification. 2. Short term results of growth plate distraction looked promising and longer limbs were seen, but long term results were unsstisfactory with premature epiphyseal closure and bone bridge formation occuring in many cases. 3. The role of indomethacine to impede bone bridge formation across the seperated growth plate could be observed, and was found that shortening could be possibly decreased. 4. Distraction epiphysiolysis would be one of valuable leg lengthening procedure at an age when the subjects bone growth is nearly complete, and also the administration of indomethacin with growth plate distraction might be effective to diminish the significant Change of shortening or angulation in high-risk juvenile fractures.
Anti-Inflammatory Agents, Non-Steroidal ; Bone Development ; Bone Remodeling ; Child ; Congenital Abnormalities ; Diaphyses ; Epiphyses ; Epiphyses, Slipped ; Extremities ; Growth Plate ; Humans ; Indomethacin ; Leg ; Lower Extremity ; Methods ; Orthopedics ; Osteotomy ; Rabbits ; Radiography ; Socioeconomic Factors ; Tibia

Human adipose tissue-derived mesenchymal stem cell (hATMSC) have emerged as a potentially powerful tool for bone repair, but an appropriate evaluation system has not been established. The purpose of this study was to establish a preclinical assessment system to evaluate the efficacy and safety of cell therapies in a nude rat bone defect model. Segmental defects (5 mm) were created in the femoral diaphyses and transplanted with cell media (control), hydroxyapatite/tricalcium phosphate scaffolds (HA/TCP, Group I), hATMSCs (Group II), or three cell-loading density of hATMSC-loaded HA/TCP (Group III-V). Healing response was evaluated by serial radiography, micro-computed tomography and histology at 16 weeks. To address safety-concerns, we conducted a GLP-compliant toxicity study. Scanning electron microscopy studies showed that hATMSCs filled the pores/surfaces of scaffolds in a cell-loading density-dependent manner. We detected significant increases in bone formation in the hATMSC-loaded HA/TCP groups compared with other groups. The amount of new bone formation increased with increases in loaded cell number. In a toxicity study, no significant hATMSC-related changes were found in body weights, clinical signs, hematological/biochemical values, organ weights, or histopathological findings. In conclusion, hATMSCs loaded on HA/TCP enhance the repair of bone defects and was found to be safe under our preclinical efficacy/safety hybrid assessment system.
Adipose Tissue/*cytology ; Animals ; Biocompatible Materials/therapeutic use ; Bone Diseases/pathology/radiography/*therapy ; Bone Regeneration/physiology ; Calcium Phosphates/therapeutic use ; Diaphyses/radiography/surgery/ultrastructure ; Disease Models, Animal ; Durapatite/therapeutic use ; Femur/*pathology/radiography/surgery ; Humans ; Male ; *Mesenchymal Stem Cell Transplantation ; Mesenchymal Stem Cells/*cytology ; Rats ; Rats, Nude ; Tissue Engineering ; Tomography, X-Ray Computed ; Transplantation, Heterologous