Whipple's disease in a father-son pair Ponz de Leon, Maurizio; Borghi, Athos; Ferrara, Francesca ...
Internal and emergency medicine,
01/2006, Letnik:
1, Številka:
3
Report
The genomes of present-day non-Africans are composed of 1-3% of Neandertal-derived DNA as a consequence of admixture events between Neandertals and anatomically modern humans about 50-60 thousand ...years ago. Neandertal-introgressed single nucleotide polymorphisms (aSNPs) have been associated with modern human disease-related traits, which are risk factors for pancreatic ductal adenocarcinoma (PDAC), such as obesity, type 2 diabetes, and inflammation. In this study, we aimed at investigating the role of aSNPs in PDAC in three Eurasian populations.
The high-coverage Vindija Neandertal genome was used to select aSNPs in non-African populations from 1000 Genomes project phase 3 data. Then, the association between aSNPs and PDAC risk was tested independently in Europeans and East Asians, using existing GWAS data on more than 200 000 individuals. We did not find any significant associations between aSNPs and PDAC in samples of European descent, whereas, in East Asians, we observed that the Chr10p12.1-rs117585753-T allele (MAF = 10%) increased the risk to develop PDAC (OR = 1.35, 95%CI 1.19-1.54, P = 3.59 × 10
), with a P-value close to a threshold that takes into account multiple testing.
Our results show only a minimal contribution of Neandertal SNPs to PDAC risk.
Since the prevalence of gallstones is higher in diabetics than in controls and since cholelithiasis is often associated with supersaturated bile, we measured bile lipid composition and bile acid pool ...size in 8 patients with juvenile diabetes, 16 with maturity-onset diabetes, and 10 control subjects. Bile lipid composition was expressed as "saturation index." In the maturity-onset diabetics the saturation index (1.60 +/- 0.45 SDM) was significantly higher (P less than 0.005) than that in the controls (0.82 +/- 0.20) and in patients with juvenile diabetes (0.75 +/- 0.24). The absolute values for biliary bile acid concentration were significantly lower (P less than 0.01) in the maturity-onset diabetics than in the other two groups. There were no differences in either the proportion of the individual biliary bile acids or the size of the bile acid pool between the three groups. The results suggest that the incidence of cholelithiasis in diabetes is associated with the secretion of a supersaturated bile only in the maturity-onset subgroup.
24 gallstone patients were treated with cicloxilic acid, an agent endowed with choleretic activity, at the dose of 240 mg/day for 1 month. 24 comparable patients on placebo treatment acted as ...controls. Bile lipid composition was determined and the saturation index calculated before and after treatment, on samples collected by duodenal siphonage after caerulein stimulation, in both groups. In the cicloxilic group there was little or no change in bile salts and phospholipids, whereas biliary cholesterol concentration was significantly reduced (p less than 0.05) and consequently the lithogenic index lowered (from 1.5 to 1.2, p less than 0.01). Cicloxilic acid can have a place in gallstone disease therapy in association with the litholytic bile acids or in the prevention of gallstone formation in high-risk populations.
