T300A variant of AT16L1 gene in a cohort of Algerian Crohn disease patients.

The T300A variant is among the most Crohn's disease (CD) associated genetic variants. The aim of our study is to bring a first insight about the contribution of the T300A variant in a cohort of Algerian CD. In a case/control design, 118 Algerian CD patients and 161 unrelated healthy subjects were genotyped for the T300A variant using the allelic discrimination test by Applied Biosystems Taqman® genotyping technology. A serological analysis was carried out using Biosystems™ ELISA kit for the assessment of the anti-Saccharomyces cerevisiae antibodies and immunofluorimetry via Luminex® technology for the evaluation of cytokine levels (TNFα, IFNγ, IL-6 and IL-17). The comparison between allelic and genotypic frequencies was performed using the χ2 test and the exact Fischer test. The odds ratio (OR) was noted adopting confidence interval of 95%. The comparison between the averages was carried out by the Mann-Whitney and Kruskal-Wallis tests. A factorial discriminant analysis and a binary logistic regression were performed as further analyses. The T300A variant showed an increased risk of CD within homozygous variant carriers (P=0.027). Moreover, the carriage of the G allele was associated with the early onset of CD (P=0.01) and a severe CD impairment (P=0.045). We were not able to comfort the association of the T300A variant and ASCA IgA, ASCA IgG and IFNγ levels detected at the univariate analysis. Our results suggest a possible association between the T300A variant and CD in this cohort of Algerian CD patients. Moreover, this variant might be incriminated in the early onset of CD and a severe disease impairment. At the serological study, the univariate and the multivariate analyses yielded contradictory results. Further investigations of larger cohorts of Algerian CD are needed to better assess the suggested associations at the present study.

High resolution manometry to detect transient lower oesophageal sphincter relaxations: diagnostic accuracy compared with perfused-sleeve manometry, and the definition of new detection criteria.

BACKGROUND: Inhibition of transient lower oesophageal sphincter relaxations (tLESRs) has become one of the most relevant therapeutic objectives in patients with reflux symptoms resistant to proton pump inhibitors. tLESRs are currently detected by oesophageal perfused-sleeve manometry (PSM), but oesophageal high resolution manometry (HRM), which combines closely spaced pressure sensors and oesophageal pressure topography plots, may prove to be a better tool. AIM: To evaluate the efficacy, reproducibility and interobserver agreement of HRM for the detection of tLESRs, in comparison with PSM. METHODS: Twenty-four healthy volunteers underwent HRM alone and on a separate occasion with PSM simultaneously. LES pressure was monitored for 1 h during fasting and 2 h postprandial. Criteria for tLESRs were defined by characterising spontaneous LES relaxation associated with common cavity and then applied to all spontaneous LES relaxations. Interobserver agreement and the rates of tLESRs detected by HRM and PSM were compared. RESULTS: New HRM criteria for the detection of tLESRs have been established. A similar number of tLESRs were identified during the two HRM recordings (median per subject 15 and 13 (P = 0.07) and less with PSM (median per subject 11, P < 0.01). The overall concordance rate between the two procedures was substantial (kappa = 0.61). The interobserver agreement was almost perfect (kappa = 0.83) with HRM and only fair (kappa = 0.38) with PSM. CONCLUSIONS: High resolution manometry is reproducible and more sensitive than PSM to detect tLESRs. HRM provides a better interobserver agreement. These results confirm that HRM is the gold standard for detecting tLESRs (NTC00931593).

[Digestive obstruction: an unusual complication of hereditary multiple exostoses]. / Obstruction digestive : une complication exceptionnelle d'une maladie exostosante.

Hereditary multiple exostoses is an autosomal dominant bone disorder characterized by multiple cartilaginous tumors growing outward from metaphyses of long bones. These tumors are usually located in long bones of the limbs. Exostosis also called osteochondroma can cause many complications, the most serious being malignant transformation as chondrosarcoma. We report a rare phenotype of this disease in a young male patient who presents digestive symptoms caused by a voluminous degenerated lumbar exostosis with anterior abdominal development.