Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, ptosis and swallowing difficulty. The causative genetic abnormality is an expansion consisting of 2-7 additional base triplets in a repeat sequence in exon 1 of the PABPN1 (PABP2) gene and results in an increase in length of the polyalanine tract in the PABPN1 protein from 10 to 12-17 residues. The expansions are stable through meiosis and mitosis suggesting a different mechanism of mutation from that of most other triplet repeat mutations. Most reports describe OPMD expansions as consisting of multiples of a GCG sequence. However, some studies have detected GCA interspersions. We have analysed 86 OPMD patients with a PABPN1 gene expansion, including three compound heterozygotes, and have identified 13 different types of expansion mutation, six of which contain GCA and GCG and almost all of which are consistent with a mutational mechanism of unequal recombination.
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PMID:Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. 1564 84

An increasing number of rheumatologists have access to ultrasound equipment that provide both color and power Doppler modes, which can be used to investigate musculoskeletal and vascular pathologies. Musculoskeletal Doppler ultrasonography can be used to estimate levels of inflammation, to document the anti-inflammatory effect of agents such as corticosteroids and tumor necrosis factor inhibitors, to differentiate between inflammatory and degenerative disease, and to distinguish between normal and inflamed joints in cases of minor synovial swelling. Vascular Doppler ultrasonography can be used to determine organ involvement in small-vessel vasculitides, to delineate aneurysms in vasculitides of medium-sized arteries, and to assess the characteristic findings in large-vessel vasculitis. Numerous studies, including a meta-analysis, have been published on the use of temporal-artery ultrasonography for the diagnosis of giant cell arteritis. Duplex ultrasonography is a sensitive approach for detecting characteristic edematous wall swellings in active temporal arteritis and for assessing vasculitis of the axillary arteries (large-vessel giant cell arteritis) in patients with suspected temporal arteritis, polymyalgia rheumatica, or fever of unknown origin. Duplex ultrasonography can also be used to assess vasculitis of subclavian and carotid arteries in younger patients with Takayasu's arteritis and acute finger artery occlusions in patients with small-vessel vasculitides.
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PMID:Technology Insight: the role of color and power Doppler ultrasonography in rheumatology. 1720 7