(ClinicalTrials.gov number, NCT00738218.).”
“Purpose: We report the
long-term effectiveness of standard tap water for Malone antegrade continence enema irrigation as well as our algorithm for managing refractory constipation/fecal incontinence in a large single institution experience.
Materials and Methods: We retrospectively reviewed the charts of 256 Malone antegrade continence enema procedures Wortmannin clinical trial performed for chronic constipation and/or incontinence due to neuropathic bowel. Continence, type of fluid used to irrigate the colon, volume of flushes and the need for additives were recorded and a database was created. All patients were initially treated with tap water irrigation. Those in whom THZ1 mouse tap water irrigation failed underwent complete bowel cleanout with enemas and GoLYTELY (R) via the Malone antegrade continence enema, followed by a gradual increase in irrigation volume. If this was unsuccessful, additives of mineral oil, MiraLAX (R) or glycerin were added to the irrigant daily.
Results: A total of 236 patients with at least 6 months of followup were included in this study. Mean age at surgery was 10.2 years (range 2 to 36) and mean followup in the entire cohort was 50 months (range 6 to 115). Mean volume of colonic flushes was 642 ml (range 100 to 1,000). Of the patients 196 (83.1%)
achieved total fecal continence with tap water flushes alone. Using additives increased the overall continence rate to 93.6% (p <0.0001).
Conclusions: The Malone antegrade continence
enema procedure has proved invaluable for treating children with refractory constipation. When additives are used in conjunction with water flushes, they can significantly improve the overall fecal continence rate in partially continent children.”
“Background: Rare mutations affecting the Selleckchem Barasertib FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathways downstream of FOXP2 influence more common phenotypes, such as specific language impairment.
Methods: We performed genomic screening for regions bound by FOXP2 using chromatin immunoprecipitation, which led us to focus on one particular gene that was a strong candidate for involvement in language impairments. We then tested for associations between single-nucleotide polymorphisms (SNPs) in this gene and language deficits in a well-characterized set of 184 families affected with specific language impairment.
Results: We found that FOXP2 binds to and dramatically down-regulates CNTNAP2, a gene that encodes a neurexin and is expressed in the developing human cortex. On analyzing CNTNAP2 polymorphisms in children with typical specific language impairment, we detected significant quantitative associations with nonsense-word repetition, a heritable behavioral marker of this disorder (peak association, P=5.0 x 10(-5) at SNP rs17236239).