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A letter to the editor related to Duchenne muscular dystrophy is presented.

DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally based on the 'reading frame rule'. Nevertheless, the transcriptional profile of duplications, abridging the genomic configuration to the eventual protein effect, has been poorly studied. We describe 26 DMD gene duplications occurring in 33 unrelated patients and detected among a cohort of 194 mutation-positive DMD/BMD patients. We have characterized at the RNA level 16 of them. Four duplications (15%) behave as exception to the reading frame rule. In three BMD cases with out-of-frame mutations, the RNA analysis revealed that exon skipping events occurring in the duplicated region represent the mechanism leading to the frame re-establishment and to the milder phenotype. Differently, in a DMD patient carrying an in-frame duplication the RNA behaviour failed to explain the clinical phenotype which is probably related to post-transcriptional-translational mechanisms. We conclude that defining the RNA profile in DMD gene duplications is mandatory both for establishing the genetic prognosis and for approaching therapeutic trials based on hnRNA modulation. © 2008 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Since the exact mechanisms of the pathogenicity of Campylobacter pylori are not known, we performed an ultrastructural study with the aim of focusing on patterns of possible physical contact between C. pylori and gastric epithelium, and of considering them in relation to the bacterial pathogenicity. Among 20 random consecutive patients referred for routine gastroscopy, we studied ultrathin sections from the 11 patients with Campylobacter-like organisms, and recognized three patterns of physical contact between bacteria and epithelial cells. These patterns seem in accord with published data of C. pylori toxicity, and they could represent different evolutive stages of the infection. [ABSTRACT FROM AUTHOR]