All received a postal questionnaire regarding satisfaction and experiences with the system, such as side effects, complications, burden, impact on sexuality and defecation changes.
Results: Of the 275 questionnaires sent 207 were returned EPZ-6438 nmr for a 75% response rate. The population was 83% female. Overall treatment was done for overactive bladder syndrome, nonobstructive urinary retention, combined overactive bladder and retention, and pelvic pain in 55%, 24%, 20% and 1% of patients, respectively. Overall satisfaction with sacral neuromodulation was high at 90%. No correlations were found between the satisfaction rate, and pretreatment age,
gender, complaint type, sexual dysfunction or therapy duration. However, 56% of patients reported side effects, such as pain at the internal nerve stimulator site and due to stimulation. However, 89% of these patients did not seek further therapy. Of patients with additional defecation problems 47% experienced relief of complaints.
Conclusions: This study shows a high satisfaction rate in patients with sacral neuromodulation. There was no relation between patient age, complaint type, therapy duration or side effects and
the satisfaction rate. The number of side effects was limited but further analysis SB203580 nmr in prospective cohorts should identify patients who are likely to have side effects or stop sacral neuromodulation treatment.”
“BACKGROUND
The Proteus syndrome is characterized GPX6 by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state.
METHODS
We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome
and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. We then assayed activation of the AKT protein in affected tissues, using phosphorylation-specific antibodies on Western blots.
RESULTS
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G -> A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. A pair of single-cell clones that were established from the same starting culture and differed with respect to their mutation status had different levels of AKT phosphorylation.