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Occasional findings include epilepsy, intellectual disabilities, joint hypermobility, hypotonia, [1] cataracts, microphthalmia, and iris, lens, and vitreous defects. [ 3 ] People with only one copy of the gene mutation involved in this condition (heterozygotes) are at a higher risk of developing exudative vitreoretinopathy and having low bone ...
Both diseases are uncommon, but concurrence is extremely rare which makes Bruck syndrome very difficult to research. [1] Bruck syndrome is thought to be an atypical variant of osteogenesis imperfecta most resembling type III, if not its own disease.
The ultimate goals are: 1) to provide new insights into the normal function of immune cells, bones, muscles, and skin, and diseases that affect them, especially immune and inflammatory diseases; and 2) to generate a cadre of well-trained investigators to continue toward a complete understanding of these structures and the disease conditions ...
Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. [1]: 85 [9] The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe.
A skeletal survey (also called a bone survey [1]) is a series of X-rays of all the bones in the body, or at least the axial skeleton and the large cortical bones. A very common use is the diagnosis of multiple myeloma, where tumour deposits appear as "punched-out" lesions.
1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protein) NP_000079 NP_031768 Location (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene ...
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.
Osseointegration is also defined as: "the formation of a direct interface between an implant and bone, without intervening soft tissue". [1]An osseointegrated implant is a type of implant defined as "an endosteal implant containing pores into which osteoblasts and supporting connective tissue can migrate". [2]