Laboratory studies:To practice an analysis of the synthesis of collagen type I, III, V by fibroblastsThe thermal stability studies performed for collagenAmino acid composition analysis of collagen-DNA-testing of blood for genetic defects.
Imaging Studies:Prenatal sonography is most useful in evaluating osteogenesis imperfecta type II, III. In the most severe disease is detected at 16 weeks' gestation.Plain radiograph can detect three types of osteogenesis imperfecta radiological: Class I: soft and delicate bones, Category II: short and thick bones, Category III: chistige changes. Common radiological changes include:Transverse fractures, fractures, affecting the lower limbsExcessive callus-formation and bone in popcornBrain-changes: wormiene bones, enlargement of the sinuses and mastoid fronatle, platibalzia with or without basilar impression-Deformation of the thoracic cage, ribs and fractures of pectus carinatum-Changes-pelvis pelvic and proximal femoral collapsed, compression fracture, protrusion of the acetabulum.Radioabsorbtiometria is useful to assess bone mineral density in children with mild, osteogenesis imperfecta.Tomography scan of the bones can be helpful in cases of osteogenesis imperfecta atypical.
Other tests performed:-Polarized light microscopy or in combination with scanning electron microradiografiile microscopic-Skin biopsy, isolation of collagen from cultured fibroblastsBone-biopsy with changes in protein concentration Bone Osteonectin, and decorina sialoproteina.Histological examination: Note osteoporotic bone with osteoid thick shoots reduced intercellular matrix. The number of osteoclasts and osteocitelor is normal. Trabeculele bones are thin and disorganized. Lamellar bone is described in metaphysics and shaft. In osteogenesis imperfecta collagen by a qualitative defect is a severe disease. Describe hiperosteocitoza and increase vascular channels. Other elements are reducing the thickness of cortical bone, lack of normal cortical bone formation and growth desorganizarea. Note osteoid bone barrel with no minimum and lamellar bone. Octeoblste rare and electron microscopy showed collagen bundles of varying diameters.Epiphyses tend to be large and irregular, with disorganization of proliferative and hypertrophic zones, with loss of columnar arrangement.The differential diagnosis is made with the following conditions: tanatotrofica dysplasia, acondroplazia, condrodisplazia scored, hipofosfatazia, osteopetroza, vitamin D-resistant rickets, osteocondromatoza, secondary osteoporosis, scurvy, leukemia, Cushing's syndrome, homocystinuria, osteodistrophy Albright, Willson disease.
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