To describe and determine the prevalence of atraumatic medial collateral oedema identified in patients with medial compartment osteoarthritis.
Sixty patients, 30 patients with medial compartment knee ...osteoarthritis (Kellgren and Lawrence grade 2 to 4) and 30 age-matched patients with atraumatic knee pain without osteoarthritis, referred for MR imaging over a 2 year period were included in the study. In each case, severity of osteoarthritis was recorded on radiographs and correlated with the presence or absence of medial collateral ligament oedema at MR imaging.
Medial collateral oedema was identified in 27 of the 30 patients with osteoarthritis, of whom 14 had grade 1 oedema and 13 had grade 2 oedema compared with the presence of medial collateral ligament oedema (grade 1) in only two of the 30 control patients without osteoarthritis ( P<<0.0001).
Medial collateral oedema is common in patients with osteoarthritis in the absence of trauma. When identified, medial collateral ligament oedema should be considered to be a feature of osteoarthritis and should not be incorrectly attributed to an acute traumatic injury.
Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder characterized by elevated very long chain fatty acid (VLCFA) levels, reduced activity of peroxisomal VLCFA-CoA ligase, and ...variable phenotypic expression. A putative gene for ALD was recently identified and surprisingly encodes a protein (ALDP) that belongs to a family of transmembrane transporters regulated or activated by ATP (the ABC proteins). We have examined genomic DNA from ALD probands for mutations in the putative ALD gene. We detected large deletions of the carboxyl-terminal portion of the gene in 4 of 112 probands. Twenty-five of the ALD probands whose ALD genes appeared normal by Southern blot analysis were surveyed for mutations by Single Strand Conformation Polymorphism (SSCP) procedures and DNA sequence analysis. SSCP variants were detected in 22 probands and none in 60 X-chromosomes from normal individuals. Mutations were detected in all of the ALD probands. The mutations were distributed throughout the gene and did not correlate with phenotype. Approximately half were non-recurrent missense mutations of which 64% occurred in CpG dinucleotides. There was a cluster of frameshift mutations in a small region of exon 5, including an identical AG deletion in 7 unrelated probands. These data strongly support the supposition that mutations in the putative ALD gene result in ALD.
PDF
