Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss of voluntary motor control when playing the instrument. Little is known about genetic risk factors, although MD or writer's dystonia (WD) occurs in relatives of 20% of MD patients.

Exome sequencing in a family with restless legs syndrome.

Background: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found.

Methods: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing.

Irrigation pressure and vessel injury during microsurgery: a qualitative study.

Irrigation solution is routinely used in microsurgery. While the anticoagulation solution may aid in anastomotic patency, the direct effect of pressure irrigation can have a detrimental effect on the vessel. An experimental study was performed to determine the effect of irrigation pressure on the vessel wall.

Relationship between distention and absorption in rat intestine. I. Effect of luminal volume on the morphology of the absorbing surface.

Previous studies in vivo have suggested that distention of the intestinal lumen may enhance intestinal absorption by augmenting absorptive surface area. The precise anatomic mechanism for this increase in surface area, however, has not been explored in detail. We developed methods for rapidly freezing and fixing intestinal segments in situ in the nondistended or distended state.

Welders' pneumoconiosis: tissue elemental microanalysis by energy dispersive x ray analysis.

Histological examination on lung tissue obtained from 10 symptomatic welders was performed by two certified pathologists without the knowledge of the patients' clinical condition. In all cases, there was some degree of interstitial fibrosis; in five the degree of fibrosis was considered to be moderate to pronounced. The tissue was also analysed by energy dispersive x ray analysis and elemental contents were compared with age matched controls.