La baisse de la densité osseuse au cours des maladies inflammatoires chroniques de l’intestin : prévalence et facteurs de risqué

Introduction: La baisse de la densité minérale osseuse représente la principale manifestation osseuse décrite au cours des maladies inflammatoires chroniques de l'intestin. En Tunisie, très peu d'études ont rapportés sa prévalence et ses facteurs de risque. Le but de ce travail était de déterminer la prévalence de la perte osseuse au cours des maladies inflammatoires chroniques de l'intestin, et rechercher ses facteurs de risque. Méthodes: Patients et méthodes: étude ouverte transversale, réalisée de 2007 jusqu'à 2012. Résultats: 146 cas étaient colligés, dont 105 avaient une maladie de Crohn (71,9%) et 41 avaient une rectocolite hémorragique (28,1%). Il s'agissait de 62 hommes et 84 femmes. L'âge moyen était de 33,18 ans. La perte osseuse était trouvée chez 85 patients (58,2%). Il s'agissait d'une ostéopénie dans 57 cas et d'ostéoporose dans 28 cas. Les facteurs de risque de perte osseuse étaient une activité physique limitée  (p=0,013), un indice de masse corporel '20 kg/m2 (p=0,015), une maladie active (p=0,035), l'étendue de l'atteinte intestinale (p=0,006) et une dose cumulée de corticothérapie dépassant 4,5g de Prednisone (p=0,003). Conclusion: La déminéralisation osseuse est une complication fréquente mais non constante. Ceci justifie un dépistage précoce chez les patients à risque, qui pourront ainsi bénéficier d'un traitement substitutif.Key words: Maladie de Crohn, recto-colite hémorragique, densité minérale osseuse, ostéopénie, ostéoporos

Prevalence of JC Virus in Chinese Patients with Colorectal Cancer

BACKGROUND: JCV is a DNA polyomavirus very well adapted to humans. Although JCV DNA has been detected in colorectal cancers (CRC), the association between JCV and CRC remains controversial. In China, the presence of JCV infection in CRC patients has not been reported. Here, we investigated JCV infection and viral DNA load in Chinese CRC patients and to determine whether the JCV DNA in peripheral blood (PB) can be used as a diagnostic marker for JCV-related CRC. METHODOLOGY/PRINCIPAL FINDINGS: Tumor tissues, non-cancerous tumor-adjacent tissues and PB samples were collected from 137 CRC patients. In addition, 80 normal colorectal tissue samples from patients without CRC and PB samples from 100 healthy volunteers were also harvested as controls. JCV DNA was detected by nested PCR and glass slide-based dot blotting. Viral DNA load of positive samples were determined by quantitative real-time PCR. JCV DNA was detected in 40.9% (56/137) of CRC tissues at a viral load of 49.1 to 10.3×10(4) copies/µg DNA. Thirty-four (24.5%) non-cancerous colorectal tissues (192.9 to 4.4×10(3) copies/µg DNA) and 25 (18.2%) PB samples (81.3 to 4.9×10(3) copies/µg DNA) from CRC patients were positive for JCV. Tumor tissues had higher levels of JCV than non-cancerous tissues (P = 0.003) or PB samples (P<0.001). No correlation between the presence of JCV and demographic or medical characteristics was observed. The JCV prevalence in PB samples was significantly associated with the JCV status in tissue samples (P<0.001). Eleven (13.8%) normal colorectal tissues and seven (7.0%) PB samples from healthy donors were positive for JCV. CONCLUSIONS/SIGNIFICANCE: JCV infection is frequently present in colorectal tumor tissues of CRC patients. Although the association between JCV presence in PB samples and JCV status in tissue samples was identified in this study, whether PB JCV detection can serve as a marker for JCV status of CRC requires further study

The Prognostic Significance of Whole Blood Global and Specific DNA Methylation Levels in Gastric Adenocarcinoma

Epigenetics, particularly DNA methylation, has recently been elucidated as important in gastric cancer (GC) initiation and progression. We investigated the clinical and prognostic importance of whole blood global and site-specific DNA methylation in GC. tests. Survival analyses were carried out using the Kaplan-Meier method and log rank test. A backward conditional Cox proportional hazards regression model was used to identify independent predictors of survival. = 0.02) respectively.Analysis of global and site-specific DNA methylation in peripheral blood by pyrosequencing provides quantitative DNA methylation values that may serve as important prognostic indicators

Targeted next generation sequencing screening of Lynch syndrome in Tunisian population

A high colorectal cancer (CRC) incidence is observed in Tunisia, with a relatively high proportion of patients developing CRC before the age of 40. While this suggests a genetic susceptibility, only a few Tunisian Lynch Syndrome families have been described. In this study we aimed to identify the underlying genetic cause in 32 patients with early onset CRC and/or a positive family history. Of twenty-four patients' tumor or biopsies could be analyzed with immunohistochemical staining to detect loss of expression of one of the MMR proteins. Ten tumors showed loss of expression, of which one tumor was from a patient where a germline pathogenic MSH2 variant was detected previously with Sanger sequencing. Next generation sequencing of the MMR, POLE and POLD1 genes was performed in leukocyte and tumor DNA of the remaining nine patients, as well as in two patients with MMR-proficient tumors, but with severe family history. In six of 11 patients a germline variant was detected in MLH1 (n=5) or MSH2 (n=1). Two of six patients were from the same family and both were found to carry a novel in-frame MLH1 deletion, predicted to affect MLH1 function. All MLH1 variant carriers had loss of heterozygosity with retention of the variant in the tumors, while a somatic pathogenic variant was detected in the patient with the germline MSH2 variant.Molecular tumour pathology - and tumour geneticsMTG2 - Moleculaire genetica van gastrointestinale tumore