Non-adenomatous colorectal polyposis syndromes

Gastrointestinal polyps are common lesions that usually present singly or in small numbers. Although the term ‘multiple colorectal polyposis’ was originally applied to patients carrying at least 100 large intestinal adenomas, it has subsequently become broadened to include patients carrying multiple polyps regardless of their nature. Most of the non-adenomatous polyposis syndromes are hereditary. They can be classified according to the dominant type of polyp, their distribution in the gastrointestinal tract and their potential for the development of gastrointestinal cancers. This review summarises their main clinical, genetic and histopathological features.     

Localization of Genes Affecting Alcohol Drinking in Mice

The genomic map locations of specific genes controlling behaviors can be identified by studying a panel of recombinant inbred (RI) mouse strains. The progenitor C57BL/6J (B6) and DBA/2J (D2) strains, and 19 of the BXD RI strains derived from an F2 cross of these progenitors, were tested for 3% and 10% ethanol (EtOH) intake. The test sequence began with two-bottle free choice between tap water and unsweetened ethanol, and ended with free choice between water and saccharin-sweetened ethanol. Saccharin preference was also measured. Correlational analyses indicated that 59% of the genetic variance in 10% ethanol and sweetened 10% ethanol consumption was held in common, 24% of the genetic variance in saccharin and sweetened 10% ethanol consumption was held in common, and only 7% of the genetic variance in saccharin and unsweetened 10% ethanol consumption was held in common. These percentages for 3% ethanol solutions were 21%, 36%, and 14%. In addition, the severity of handling-induced convulsions during ethanol withdrawal was found to be significantly associated with the amount of ethanol consumed from the sweetened ethanol drinking tubes, suggesting that genetic differences in avidity for ethanol could lead to the development of physical dependence. Quantitative trait loci (QTL) analyses revealed that several genetic markers were associated with ethanol consumption levels, including markers for the D2 dopamine receptor. QTL analyses of saccharin and sweetened ethanol consumption identified the sac locus, thought to determine the ability to detect saccharin. In general, our results suggest that saccharin and ethanol consumption are determined by the actions of multiple genes (QTL), some in common, and suggest specific map locations of several such QTL on the mouse genome.     

Dose–response relationship in inferior oblique muscle recession

BACKGROUND: Recession of the inferior oblique muscle is a widely applied operation in the treatment of strabismus sursoadductorius. In this retrospective study, the dose-response relationship of this procedure was determined in order to improve surgical outcomes. In particular, the effect of an additional anteroposition of the operated muscle was analysed, as well as differences between short and long term results. METHODS: This retrospective study included 37 patients. Inclusion criteria were unilateral strabismus sursoadductorius and normal retinal correspondence. Exclusion criteria comprised previous ocular muscle surgery and any ocular or orbital disease. Nineteen patients had received an additional anteroposition of the muscle. Patients were examined at a tangent screen pre-operatively and 1 day post-operatively (short-term effect). Sixteen patients underwent an additional examination 3 months post-operatively (long-term effect). Changes of vertical, torsional and horizontal deviations, measured in different positions of gaze, were related to the surgical dose in order to calculate the dose-response relationship by linear regression analysis. RESULTS: Surgery always reduced preoperative deviations. The short-term vertical dose-response without/with anteroposition was 0.6 degrees /0.5 degrees per mm in primary gaze and 1.2 degrees /1.1 degrees per mm in adduction. The short-term torsional dose-response without/with anteroposition was 0.8 degrees /0.5 degrees per mm in primary gaze. Three months later, the vertical effect had remained constant, whereas the torsional effect had decreased to 0.6 degrees /0.1 degrees per mm. Variance was high, e.g. the standard deviation of the short-term effect for the vertical deviation in adduction was 2.5 degrees . CONCLUSIONS: Despite the large variation of effects, a dose-response relationship could be established, facilitating surgical planning. Large vertical deviations with small excyclodeviation are an indication for additional anteropositioning. The torsional effect of inferior oblique muscle recessions can diminish over time.     

Survey of 21 inbred mouse strains in two laboratories reveals that BTBR T/+ tf/tf has severely reduced hippocampal commissure and absent corpus callosum

A morphometric survey of brain size and forebrain commissures of 21 inbred mouse strains from the Jackson Laboratory was done with animals tested in two laboratories as part of the Mouse Phenome Project. Strain BTBR T/+ tf/tf was found to have 100% total absence of the corpus callosum as well as severe reduction of the hippocampal commissure in almost every animal, the most severe commissure defect observed to date in any commercially available mouse strain. The strain 129S1/SvImJ had a milder defect with incomplete penetrance. Crosses of BTBR mice with inbred strains BALB/cWah1, 129P1/ReJ, and the recombinant strain 9XCA/Wah having a severe commissure defect supported a two-locus model of the genetic defect in these strains. Brain size varied greatly among strains but for any one strain was almost identical in mice housed for 5 weeks in the two laboratories. Sex differences in brain weight and forebrain commissure sizes were not statistically significant.