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Results for “FRAGILITAS OSSIUM”

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PubMed1991

[Ultrasound in the diagnosis of fragilitas ossium].

Recently, a proposal has been made to evaluate bone fragility in osteoporotic women by measuring ultrasound transmission velocity at the patella. Theoretically, sound transmission velocity depends on both bone mass and other factors which are not mass-dependent--e.g. bone architecture. Ultrasound transmission technique was thus tested for the capability of evaluating bone fragility factors, which are not mass-dependent, in the screening of osteoporotic women. To this purpose, the sound velocity at the patella of 31 healthy women was compared with that of 62 osteoporotic women with spontaneous vertebral fractures having similar bone mineral content. In 31 cases bone mineral content was similar to that of healthy women at the middle radius, and in 31 at the distal radius. Sound transmission velocity was significantly lower in osteoporotic than in healthy women. Fifty-two per cent of healthy women was correctly selected by US, relative to the risk threshold, versus 13% with bone mineral densitometry. This finding suggests that US is capable of distinguishing normal from osteoporotic women having similar bone mineral content, which means that non-mass-dependent factors may affect US velocity in the bone. Since the measurement were taken in various sites, different for US and bone densitometry, our results need confirmation in further studies where measurements are taken in the same sites.

Bone Density↗
PubMed1991

Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.

The mutation fragilitas ossium (fro) was discovered in a random-bred stock of mice during an experiment aimed at detecting recessive lethal mutations after treatment of the postmeiotic germ cells of male mice with tris (1-aziridinyl)phosphine sulphide. The affected mice were moderately runted and had deformities in all four limbs. The radiological and histological findings indicate that the mutant is similar to human osteogenesis imperfecta. The ash content of long bones was lower in the mutant. A defect of type I collagen could not be detected. The electrophoretic patterns of alpha bands of type I and V collagen and CB derived peptides of type I collagen from bone and skin showed no abnormalities. The total collagen synthesis and secretion in cultures of dermal fibroblasts, as well as the gel electrophoresis of procollagen and collagen chains synthesized, and of their CB peptides, were the same as those found in the controls. The percentage of type I and type V collagen synthesized was similar; that of type III was lower in the mutants. Bone osteonectin was found to be decreased by 30% and bone sialoprotein by 5%. The mRNA level for osteonectin was decreased in the fibroblasts of the mutant by about 50%. Whether the defective expression of the osteonectin in fro/fro mice is due to a mutation in the gene itself or its regulatory site(s), or is secondary to other factors remains to be established. The fro/fro mouse may represent a model for some forms of human bone fragility without collagen abnormalities.

Animals↗
PubMed2005

A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.

The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies.

Animals↗
PubMedDate not supplied

Spondylolisthesis resulting from osteogenesis imperfecta: report of a case.

Spondylolisthesis resulting from osteogenesis imperfecta has been very rarely documented in the literature. The possibility that osteofragility of the isthmus of the fifth lumbar vertabral can cause spondylolisthesis is noteworthy in the case of a 40-year-old man with trias fragilitas ossium hereditaria.

Adult↗
PubMedDate not supplied

Looking after a pregnant woman with osteogenesis.

Osteogenesis imperfecta (OI), also known as fragilitas ossium or brittle bone disease, is a rare, inherited disease of connective tissue resulting in errors in collagen I synthesis. The incidence of the condition has been quoted as being between 1:20,000 to 1:60,000 live births, affecting females more than males. It has been classified into four types. This case study concerns a pregnant woman suffering from the most common form of OI, type I, which affects 80% of sufferers and occurs as an autosomal dominant inheritance or as a new mutation.

Child, Preschool↗