Search results
Results from the WOW.Com Content Network
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 ...
The Pediatric Translational Research Branch conducts basic, translational, and clinical research to dissect the pathways involved in the pathogenesis of immune-mediated inflammatory diseases. The mechanisms by which specific gene mutations and polymorphisms predispose to inflammation, and how they contribute to unique phenotypic manifestations ...
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.
Bone is broken down by osteoclasts, and rebuilt by osteoblasts, both of which communicate through cytokine (TGF-β, IGF) signalling.Ossification (also called osteogenesis or bone mineralization) in bone remodeling is the process of laying down new bone material by cells named osteoblasts.
Urinary inorganic pyrophosphate (PPi) levels are elevated in most hypophosphatasia patients and, although it remains only a research technique, this increase has been reported to accurately detect carriers of the disease. In addition, most patients have an increased level of urinary phosphoethanolamine (PEA) although some may not. [6]
Distraction osteogenesis (DO) is used in orthopedic surgery, and oral and maxillofacial surgery to repair skeletal deformities and in reconstructive surgery. [1] [2] [3] It was originally used to treat problems like unequal leg length, but since the 1980s is most commonly used to treat issues like hemifacial microsomia, micrognathism (chin so small it causes health problems), craniofrontonasal ...
[14] [15] There is limited research on familial aggregation in other forms of spondyloarthritis. [ 12 ] HLA-B27 is a polymorphic form of the HLA-B molecule found in up to 95% of people with ankylosing spondylitis of European ancestry, [ 16 ] [ 17 ] 70% with reactive arthritis , [ 18 ] 60% with psoriatic spondylitis , [ 12 ] 25% with peripheral ...
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. [2] [3] Multiple gene mutations associated with osteogenesis imperfecta are not seen in Bruck ...