102,079 research outputs found
Beclomethasone dipropionate (3 mg) enemas combined with oral 5-ASA (2.4 g) in the treatment of ulcerative colitis not responsive to oral 5-ASA alone.
No full textBeclomethasone dipropionate is one of the topical corticosteroids which appear to have minimal systemic effects. We evaluated whether combined therapy with Beclomethasone dipropionate enemas and oral 5-aminosalicylic acid could be effective in patients suffering from ulcerative colitis not responsive to oral 5-aminosalicylic acid as monotherapy.
In twenty patients,non responders to 5-aminosalicylic acid treatment (2.4-3.6 g/day) given for at least 6 weeks,Beclomethasone dipropionate enemas (3 mg/60 ml/day) were added for 4 weeks. Efficacy of the combination was evaluated before and at the end of the treatment using a clinical,endoscopic and histological score
Craniofacial pain followed by scalp necrosis and stroke. An unusual presentation of the primary antiphospholipid syndrome
No full textA comment on:"Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy"
No full textA comment on:"Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy"
No full text
A comment on: 'Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy' by Paola Strocchi et al., FEBS Letters 359 (1995) 203-205
No full textImpact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data
No full textBackground: Transposable elements (TEs) are DNA sequences able to mobilize themselves and to increase their copy-number in the host genome. In the past, they have been considered mainly selfish DNA without evident functions. Nevertheless, currently they are believed to have been extensively involved in the evolution of primate genomes, especially from a regulatory perspective. Due to their recent activity they are also one of the primary sources of structural variants (SVs) in the human genome. By taking advantage of sequencing technologies and bioinformatics tools, recent surveys uncovered specific TE structural variants (TEVs) that gave rise to polymorphisms in human populations. When combined with RNA-seq data this information provides the opportunity to study the potential impact of TEs on gene expression in human. Results: In this work, we assessed the effects of the presence of specific TEs in cis on the expression of flanking genes by producing associations between polymorphic TEs and flanking gene expression levels in human lymphoblastoid cell lines. By using public data from the 1000 Genome Project and the Geuvadis consortium, we exploited an expression quantitative trait loci (eQTL) approach integrated with additional bioinformatics data mining analyses. We uncovered human loci enriched for common, less common and rare TEVs and identified 323 significant TEV-cis-eQTL associations. SINE-R/VNTR/Alus (SVAs) resulted the TE class with the strongest effects on gene expression. We also unveiled differential functional enrichments on genes associated to TEVs, genes associated to TEV-cis-eQTLs and genes associated to the genomic regions mostly enriched in TEV-cis-eQTLs highlighting, at multiple levels, the impact of TEVs on the host genome. Finally, we also identified polymorphic TEs putatively embedded in transcriptional units, proposing a novel mechanism in which TEVs may mediate individual-specific traits. Conclusion: We contributed to unveiling the effect of polymorphic TEs on transcription in lymphoblastoid cell lines
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