Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the radiologic features of four patients proven to have Hermansky-Pudlak syndrome. All four patients had evidence of pulmonary involvement characterized by a progressive, diffuse, bilateral interstitial fibrosis. Extensive bullous changes were seen in one patient. Two patients with evidence of diffuse colitis exhibited an asymmetrical pattern of focal, superficial, and deep ulcerations similar to that of Crohn's disease. The association of these radiographic abnormalities with albinism, ocular abnormalities, bleeding diathesis, and Puerto Rican ancestry establishes the diagnosis.
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PMID:The Hermansky-Pudlak syndrome: radiographic features. 293 83

The authors had examined by double contrast barium enema in 115 cases of Crohn's ileo-colitis. They described the radiological double contrast features. The "early lesions" are always surrounded by a healthy-looking mucosa. The advanced lesions are segmentary: shallow limited ulcers, shallow confluent ulcers, cobblestone pattern and nodular pattern. Several types of lesions may appear in the same patient. The distribution of the lesions is asymmetrical with skip areas and gradual size of the lesions. The parietal lesions are well demonstrated by double contrast, especially the sacculations. Our radiological findings are confirmed by endoscopical features and excised specimens in 100 cases. A double contrast barium enema is necessary to well described the lesions especially the "early lesions" which are important for differential diagnostic, with ulcerative colitis, for surgical treatment in evaluating the extend of the disease and possibly even for prognosis in this disease.
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PMID:[Radiological double contrast examination in Crohn's colitis. A report about 115 cases (author's transl)]. 728 37

Ankylosing spondylitis (AS) is the prototypical form of the spondyloarthropathies, which at a prevalence of 2 % is among the most frequent rheumatic diseases. Spondyloarthropathy comprises the following five disorders: AS, reactive arthritis, psoriatic arthritis, enteropathic arthritis in Crohn's disease, and ulcerosing colitis as well as undifferentiated spondyloarthropathy. In 99 % of the patients with AS initial abnormal findings affect the sacroiliac joints. The radiographic changes required for diagnosing AS occur as late as 5 - 9 years after the onset of clinical symptoms. MRI of the sacroiliac joints reliably demonstrates both chronic inflammatory changes (erosions, sclerotic changes, bone bridges) and acute inflammatory changes (synovitis, capsulitis, osteitis) and allows for grading the chronicity and acuity of such changes. Enthesitis of the interosseous ligaments of the retroarticular space is a manifestation of AS. Spondylodiscitis (Andersson 1937) may occur as an inflammatory or non-inflammatory process (transdiscal fatigue fracture). Inflammations of the facet and costospinal joints developing into ankylosis are typical of AS. Changes of the vertebral bodies occur as anterior (Romanus 1952), posterior, and marginal spondylitis. All forms of spondyloarthropathies are furthermore characterized by asymmetrical synovitis of the large joints, particularly of the legs (gonarthritis, coxitis, tarsitis, peripheral oligoarthritis), rheumatic fibroosteitis (pelvic enthesitis, rheumatic calcaneopathy), and peri- and synchondritis of the pubic symphisis and sternal synchondrosis. Since early inflammatory changes of the spinal column and of the extravertebral localizations in AS are demonstrated by MRI before they become apparent on radiographs, and thereby the diagnostic gap could be closed, the early use of MRI for diagnostic and follow-up is commendable, when new therapeutical options like the so-called "biologicals" are employed.
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PMID:[Magnetic resonance imaging in ankylosing spondylitis (Marie-Struempell-Bechterew disease)]. 1247 19

Joint involvement is the most common extraintestinal manifestation in children with inflammatory bowel disease (IBD) and may involve 16%-33% of patients at diagnosis or during follow-up. It is possible to distinguish asymmetrical, transitory and migrating arthritis (pauciarticular and polyarticular) and spondyloarthropathy (SpA). Clinical manifestations can be variable, and peripheral arthritis often occurs before gastrointestinal symptoms develop. The inflammatory intestinal pattern is variable, ranging from sub-clinical inflammation conditions, classified as indeterminate colitis and nodular lymphoid hyperplasia of the ileum, to Crohn's disease or ulcerative colitis. Unlike the axial form, there is an association between gut inflammation and evolution of recurrent peripheral articular disease that coincides with a flare-up of intestinal disease. This finding seems to confirm a key role of intestinal inflammation in the pathogenesis of SpA. An association between genetic background and human leukocyte antigen-B27 status is less common in pediatric than n adult populations. Seronegative sacroiliitis and SpA are the most frequent forms of arthropathy in children with IBD. In pediatric patients, a correct therapeutic approach relies on the use of nonsteroidal antiinflammatory drugs, local steroid injections, physiotherapy and anti-tumor necrosis factor therapy (infliximab). Early diagnosis of these manifestations reduces the risk of progression and complications, and as well as increasing the efficacy of the therapy.
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PMID:Current issues in pediatric inflammatory bowel disease-associated arthropathies. 2441 57