Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003090 (arthrodesis)
 8,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pathology of ankylosing spondylitis (AS) and related spondyloarthropathies (SpA) characteristically involve a sacroiliitis and inflammation of the intervertebral discs (IVD) in the lumbar spine, and an enthesitis at sites of ligamentous insertions into bone. The proteoglycans aggrecan and versican are large molecules that aggregate with hyaluronic via a globular 1 domain. These domains share significant homology at the level of B and T cell epitope recognition. Both proteoglycans are present in the intervertebral disc and hyaline cartilages of the sacroiliac joint, as well as in entheses. Whereas aggrecan is most concentrated in the nucleus of the IVD and in articular cartilages and endplates, versican is generally absent from these tissues except in the sacroiliac joint, but is concentrated in ligaments and the annulus. Immunity to these molecules in BALB/c mice results in an AS-like pathology, including sacroiliitis, enthesitis, and discitis. The pathology of AS is closely associated with the expression of the class I molecule human leukocyte antigen-B27. Rats bearing this transgene develop an AS-like pathology, as well as other various signs of autoimmunity. Ankylosing spondylitis is characterized by an ankylosing pathology whereby bone formation in the annulus leads to intervertebral fusion. Mice bearing the ank/ank defect gene develop a bony ankylosis of the spine like that seen in advanced AS and related SpA. These three animal models provide insight into the pathogenesis of SpA, and opportunities to investigate their pathology in relationship to human disease where investigation of the pathobiology is very difficult, because of restricted access to involved tissues.
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PMID:Animal models of ankylosing spondylitis. 1242 66

Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy with a well recognized propensity for aggressive bone erosions. In some individuals, however, periarticular bone mineralization is maintained, and there is often associated new bone formation with periostitis and frank ankylosis; thus PsA manifests, in different individuals, reciprocal patterns of joint pathology suggesting a disorder of bone remodeling. Recent key scientific advances will be briefly reviewed including T cell, B cell, human leukocyte antigen associations; and the importance of neoangiogenesis, vascularity, and adhesion molecules in conjunction with inflammatory infiltrates and cytokine expression. Finally, the mechanisms of abnormal bone remodeling are discussed, including mediators of osteoclastogenesis such as RANK ligand and molecular signaling pathways including Dickkop-1 and bone morphogenetic proteins. Although much has been learned about the pathogenesis of PsA, much remains to be defined regarding the mechanisms linking synovial biology and immunopathology to different disease outcomes. Identifying key differentiating factors between the diverse PsA phenotypes, correlating findings with the rapidly advancing field of ultrasound image acquisition, and delineating the cellular and molecular mechanisms of abnormal bone remodeling in combination should enable the development of improved prognostic algorithms. This in turn should facilitate the targeting of expensive (about pound10k/patient/year) and potentially toxic yet effective biologics to patients most in need.
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PMID:Basic synovial biology and immunopathology in psoriatic arthritis. 1966 29

Ankylosing spondylitis (AS) is a complex disease involving multiple risk factors, both genetic and environmental. AS patients are predominantly young men, and the disease is characterized by inflammation and ankylosis, mainly at the cartilage-bone interface and enthesis. HLA-B27 has been known to be the major AS-susceptibility gene for more than 40 years. Despite advances made in the past few years, progress in the search for non-human leukocyte antigen susceptibility genes has been hampered by the heterogeneity of the disease. Compared to other complex diseases, such as inflammatory bowel disease (IBD), fewer susceptibility loci have been identified in AS. Furthermore, non-major histocompatibility-complex susceptibility loci discovered, such as ERAP1 and IL23R, are likely contributors to joint inflammation. Identification and confirmation of functional variants remains a significant challenge of investigations involving genome-wide association studies (GWAS). It remains unclear why none of the AS-susceptibility genes identified in GWAS appear to be directly involved in the ankylosing process. Numerous reviews have recently been published on the genetics of AS. Therefore, aside from a brief summary of what AS GWAS has successfully achieved thus far, this review will focus on directions that could address unanswered questions raised by GWAS.
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PMID:The genetic basis of ankylosing spondylitis: new insights into disease pathogenesis. 2497 Oct 29

Spondyloarthropathy refers to any joint disease of the vertebral column, but the term is mainly used for a specific group of disorders called seronegative spondyloarthropathies (SpAs). The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are commonly shared features of SpAs. Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of one or more cervical vertebrae, accompanied by various skeletal and extra-skeletal anomalies. We report a case of an adult male patient with HLA B27 positivity presenting with chronic cervical spine pain accompanied by morning stiffness and periodic night pain, with radiologically confirmed ankylosis and fusion of several cervical segments. His medical history included urogenital abnormalities operated in childhood and mild mitral prolapse. Initially suspected diagnosis of an early axial form of SpA was rejected after thorough workup. Instead, the nature of vertebral defects along with the past medical history of urogenital and cardiac abnormalities pointed towards the diagnosis of KFS. HLA B27 presence can be a confounder in patients presenting with spinal pain and that is why the differential diagnosis of CSD-s and SpA can be challenging in some patients.
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PMID:Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review. 3121 70

Ankylosing spondylitis (AS) is a complex disease characterized by inflammation and ankylosis primarily at the cartilage-bone interface. The disease is more common in young males and risk factors include both genetic and environmental. While the pathogenesis of AS is not completely understood, it is thought to be an immune-mediated disease involving inflammatory cellular infiltrates, and human leukocyte antigen-B27. Currently, there is no specific diagnostic technique available for this disease; therefore conventional diagnostic approaches such as clinical symptoms, laboratory tests and imaging techniques are used. There are various review papers that have been published on conventional treatment approaches, and in this review work, we focus on the more promising nanomedicine-based treatment modalities to move this field forward.
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PMID:Advances in nanomedicine for the treatment of ankylosing spondylitis. 3180 60