Osteogenesis

COMP/TSP5 cartilage oligomeric matrix protein/thrombospondin-5 

HUVEC human umbilical vein endothelial cell 

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Strontium-89 chloride is a calcium analogue that rapidly clears from the blood and is taken up into bone mineral, particularly in areas of active osteogenesis, as weU as primary bone tumors and metastases. It is used for reHef of bone pain in patients having painful skeleton bone metastases. It is suppHed in an injectable solution. 

Technetium-99m oxidronate is a bone imaging agent used to demonstrate areas of altered osteogenesis. It is rapidly cleared from the blood and taken up in areas of bone that are undergoing osteogenesis. The kit is a vial containing a lyophilized powder where sodium oxidronate is the active... 

Technetium-99m medronate ( Tc methylene diphosphonate) is used as a bone imaging agent to delineate areas of altered osteogenesis. The product is formed by the addition of up to 7.4 GBq (200 mCi) of Tc pertechnetate. 

Chitosan microsphere-encapsulated human growth hormone seems to be quite effective in early bone consolidation in distraction osteogenesis [342]. 

COUAICOL1A2 Osteogenesis imperfecta, type T(MIM 1566200) Osteoporosis (MIM 166710) Ehlers-Danlos syndrome type VII autosomal dominant (130060)... 

At least four types of osteogenesis imperfecta are recognized the great majority of mutations in all types are in the COLlAl and COf M2 genes. 

Osteogenesis Imperfecta (eg, MIM 166200) Due to a variety of mutations In the COL /Aland COL 1A2 genes affecting the synthesis and structure of type 1 collagen. 

Diseases associated with impaired synthesis of collagen include scurvy, osteogenesis imperfecta, Ehlers-Danlos syndrome (many types), and Menkes disease. 

The molecular causes of a number of heritable diseases of bone (eg, osteogenesis imperfecta) and of cartilage (eg, the chondrodystrophies) are being revealed by the application of recombinant DNA technology. 

In these 500 cases, there were 26 culture failures, an Incidence of about 5% Nine women of this group underwent a second aminocentesls, and successful cultures were obtained The other 17, or 3 4% of the total, did not obtain any results, either because of spontaneous abortions prior to the time a second amniocentesis could be performed (In four) or because the family elected not to proceed There were no Instances of severe or significant fetal Injury, although small linear "scars" were noted on four fetuses Three fetuses had abnormalities which were not related to the procedure Itself, Including spina bifida, osteogenesis Imperfecta, and congenital heart disease ... 

Bonadio, J. and Byers, P.H. (1985) Subtle structural alterations in the chains of type-I procollagen produce osteogenesis imperfecta type-II. Nature 316, 363-366. 

VIII The phenotype of the probands overlapped Sillence lethal type ll/severe type III osteogenesis... 

Osteogenesis imperfecta Mutations in collagen genes Skeletal deformities Fractures, blue sclera... 

In assessing a patient with osteogenesis imperfecta, a history of bone fractures, as well as blue sclerae, are noted. These findings are an example of... 

Allelic heterogeneity is observed in osteogenesis imperfecta (choice A), but allelic heterogeneity causes variable expression in patients and is not the principle described here. 

Osteogenesis imperfecta is a good example of a disease in which locus heterogeneity (choice C) is observed, but this principle refers to the fact that a mutation in either the type 1 procollagen gene on chromosome 7 or the type 1 procoUagen gene on chromosome 17 can result in imperfect formation of the trimeric protein. This principle does not explain the co-occurrence of ftactures and blue sclerae. 

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