Search results
Results from the WOW.Com Content Network
If hearing loss does not occur by age 50, it is significantly less likely to occur in the years afterwards. [32] Mixed hearing loss is most common among those with OI of all age groups, while conductive hearing loss is most likely to affect older people, with sensorineural hearing loss most likely to affect children.
Osteogenesis imperfecta, type I: Osteogenesis imperfecta is the most common disorder caused by mutations in this gene. Mutations that inactivate one of the two copies of the COL1A1 gene cause osteogenesis imperfecta type I. The mutated copy of the gene does not produce any pro-alpha1(I) collagen chains.
Osteogenesis Imperfecta (types 1–4): Mutations in COL1alpha 1 and/or COL1alpha2 are known to cause several different types of Osteogenesis Imperfecta with the severity of said diseases being related to the type and frequency of the mutations occurring. [9] For further information on COL1's effect in this disease, see Collagen, type 1, alpha 1.
In fracture healing, endochondral osteogenesis is the most commonly occurring process, for example in fractures of long bones treated by plaster of Paris, whereas fractures treated by open reduction and internal fixation with metal plates, screws, pins, rods and nails may heal by intramembranous osteogenesis.
Locus heterogeneity may have major implications for a number of human diseases. For instance, it has been associated with retinitis pigmentosa, [4] hypertrophic cardiomyopathy, [5] osteogenesis imperfecta, [6] familial hypercholesterolemia, [7] and hearing loss. [8]
A pathologic fracture is a bone fracture caused by weakness of the bone structure that leads to decrease mechanical resistance to normal mechanical loads. [1] This process is most commonly due to osteoporosis, but may also be due to other pathologies such as cancer, infection (such as osteomyelitis), inherited bone disorders, or a bone cyst.
A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. [3]
The mutations in the gene that causes osteoporosis-pseudoglioma either impaire the cells' ability to produce LRP5 protein or they change the single amino acids in the protein. They cannot insert themselves into the outside of the cell, which in turn does not allow them to do their function.