Difficult Stones in the Common Bile Duct Successfully Treated by Electrohydraulic Lithotripsy using a Double Lumen Balloon Catheter and Rotating Hemostatic Valve under 180 Degree Revolving X-ray System.

The effectiveness of electrohydraulic lithotripsy (EHL) for stones in the common bile duct (CBD) is well established. It is recommended that the procedure is performed under cholangioscopic control for correct positioning of the probe onto the surface of the stones and prevention of complications arising from contact between the tip of the probe and biliary mucosa. However problems are encountered if insertion of the babyscope into the bile duct is not successful particularly in the presence of duct stenosis or technical difficulties, or when the mother-baby system can not be prepared. For the latter reason, large difficult stones in the CBD were treated by EHL using a double lumen balloon catheter and rotating hemostatic valve (EHLB) under 180 degree revolving X-ray system. The tip of the EHL probe was placed at 2-3 mm out of the balloon catheter, which was used to avoid contact between the tip of the probe and mucosa of the CBD under fluoroscopic control. Rotating hemostatic valve was used to allow examination of the effect of EHL without changing the catheter or pulling out the probe during operation. After endoscopic sphincterotomy, the device was delivered close to the surface of the stone under fluoroscopic guidance. After inflation of the balloon, we confirmed that the tip of the device was set at almost the center of the CBD by 180 degree revolving X-ray system. Partial fragmentation and complete removal of the stones was achieved by combined treatment including EHLB, basket or balloon catheter for stone extraction. There were no serious procedure-related complications

Association of FTO genotype with obesity and bone health among communitydwelling adults ; Goto Island study on bone health

Bone mass is tuned by various factors, including aging, menopause, low body weight, and genetic variations. Here, we showed an independent association between a genotype on the fat mass- and obesity-associated FTO gene (#610966 on OMIM) and bone loss after adjusting for age and body mass index (BMI). A cross-sectional study was nested in a prospective observational study of 1,828 participants (median age: 69 [62-76] years in men and 68 [61-75] years in women) residing in a rural city in western Japan (Goto Island study). Participants were recruited during medical checkups in 2014 and 2016 from the community-dwelling population. The bone mass of the calcaneus was evaluated using quantitative ultrasound. The single nucleotide polymorphism (SNP) rs1421085 was genotyped using a hydrolysis probe. The chi-squared test was used to determine whether the variants were in equilibrium in this population. There were differences in medians of BMI among the genotypes (24.3 in CC, 23.0 in CT, and 22.6 in TT, P = 0.01), but not in those of bone mass. There was a significant association between the minor allele (C) and being overweight in a gene dosage-dependent manner (BMI > 25, OR per allele =1.52, 95% CI = 1.07-2.14, P = 0.02 in men, OR = 1.48, 95% CI = 1.16-1.95, P = 0.01 in women). Logistic regression analysis showed a significant protective association in male carriers of the minor allele against low bone mass (QUS T-score less than -2.0) after adjusting for age and BMI in men aged 65-75 years (OR = 0.50, 95% CI = 0.27-0.96, P = 0.036), with no significant association in women.Our study indicated an association between the genetic polymorphism of FTO and bone mass among community-dwelling men aged 65-75 years. The polymorphism may play a role in bone health with higher BMI and other beneficial functions

The Constrained Maximal Expression Level Owing to Haploidy Shapes Gene Content on the Mammalian X Chromosome.

X chromosomes are unusual in many regards, not least of which is their nonrandom gene content. The causes of this bias are commonly discussed in the context of sexual antagonism and the avoidance of activity in the male germline. Here, we examine the notion that, at least in some taxa, functionally biased gene content may more profoundly be shaped by limits imposed on gene expression owing to haploid expression of the X chromosome. Notably, if the X, as in primates, is transcribed at rates comparable to the ancestral rate (per promoter) prior to the X chromosome formation, then the X is not a tolerable environment for genes with very high maximal net levels of expression, owing to transcriptional traffic jams. We test this hypothesis using The Encyclopedia of DNA Elements (ENCODE) and data from the Functional Annotation of the Mammalian Genome (FANTOM5) project. As predicted, the maximal expression of human X-linked genes is much lower than that of genes on autosomes: on average, maximal expression is three times lower on the X chromosome than on autosomes. Similarly, autosome-to-X retroposition events are associated with lower maximal expression of retrogenes on the X than seen for X-to-autosome retrogenes on autosomes. Also as expected, X-linked genes have a lesser degree of increase in gene expression than autosomal ones (compared to the human/Chimpanzee common ancestor) if highly expressed, but not if lowly expressed. The traffic jam model also explains the known lower breadth of expression for genes on the X (and the Z of birds), as genes with broad expression are, on average, those with high maximal expression. As then further predicted, highly expressed tissue-specific genes are also rare on the X and broadly expressed genes on the X tend to be lowly expressed, both indicating that the trend is shaped by the maximal expression level not the breadth of expression per se. Importantly, a limit to the maximal expression level explains biased tissue of expression profiles of X-linked genes. Tissues whose tissue-specific genes are very highly expressed (e.g., secretory tissues, tissues abundant in structural proteins) are also tissues in which gene expression is relatively rare on the X chromosome. These trends cannot be fully accounted for in terms of alternative models of biased expression. In conclusion, the notion that it is hard for genes on the Therian X to be highly expressed, owing to transcriptional traffic jams, provides a simple yet robustly supported rationale of many peculiar features of X's gene content, gene expression, and evolution