Effectiveness of laxatives in elderly - a cross sectional study in nursing homes

<p>Abstract</p> <p>Background</p> <p>Laxatives are efficient drugs, but the effectiveness has been questioned. In nursing homes, the prevalence of constipation is high and laxatives are commonly used drugs. The aims of the study were to assess the effectiveness of laxative therapy in an everyday setting in Norwegian nursing homes, study differences between treatment regimens and factors associated with normal bowel function.</p> <p>Methods</p> <p>A cross-sectional study. After giving informed consent, residents above 60 years of age using laxatives for functional constipation were included, and their characteristics, medical history, use of drugs and bowel functions were recorded. Normal bowel function was defined as bowel movements from 3 times/week to 3 times/day and stool consistency 3-5 on Bristol Stool Form Scale.</p> <p>Results</p> <p>Out of 647 residents in the nursing homes, 197 were included and 116 (59%) had normal bowel function. The treatment effect did not differ significantly between the laxatives, treatment regimens or expected efficacy of the regimens. The treatment was unsatisfactorily adapted to individual needs. In subjects with normal bowel function, 113 (97%) had persistent complaints; 68 (59.5%), 10 (8.0%), 34 (28.6%) and 26 (22.5%) reported straining, manual manoeuvre to facilitate bowel movements, feeling of incomplete bowel movements, and feeling of anorectal obstruction respectively. Good nutritional status, previous or present cancer disease and anxiety/depression were predictors of normal bowel function.</p> <p>Conclusions</p> <p>Treatment of constipation in nursing homes was unsatisfactory. Nearly all patients with normal stool frequency and consistence had some persistent complaints. Improved nutrition and individualization of the treatment could improve the outcome.</p

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Background: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. Methods: 2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes. Results: We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel HUWE1 mutation. Conclusions: As we identified a HUWE1 mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in ATRX as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same HUWE1 mutation.Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E Schwart