ABSTRACT
BACKGROUND: Incisional hernias are a frequent complication after abdominal surgeries. The aim of this study is to investigate the impact of incisional hernia repair on health related quality of life. METHODS: We prospectively recruited a sample of patients waiting for incisional hernia repairs in the Vancouver Coastal Health Authority, Canada. Study participants self-report their pain, depression and overall quality of life using patient reported outcome measures EQ-5D, PHQ-9 and PEG as they were placed on the waitlist and 6 months after surgery. RESULTS: There were 87 patients who responded to both the pre and post-operative survey. The average wait for surgery was 20.3 weeks. Patients with poor baseline health pre-operatively had significant improvement in pain, depression and quality of life. CONCLUSIONS: Among patients with poorer baseline health who underwent surgery for incisional hernias, there was a significant benefit in depression, pain and overall quality of life.
Subject(s)
Herniorrhaphy , Incisional Hernia/surgery , Patient Reported Outcome Measures , Quality of Life , Waiting Lists , Aged , British Columbia , Depression/psychology , Female , Humans , Male , Middle Aged , Pain Measurement , Prospective Studies , Surveys and QuestionnairesABSTRACT
Cis-regulatory variants that alter gene expression can modify disease expressivity, but none have previously been identified in Huntington disease (HD). Here we provide in vivo evidence in HD patients that cis-regulatory variants in the HTT promoter are bidirectional modifiers of HD age of onset. HTT promoter analysis identified a NF-κB binding site that regulates HTT promoter transcriptional activity. A non-coding SNP, rs13102260:G > A, in this binding site impaired NF-κB binding and reduced HTT transcriptional activity and HTT protein expression. The presence of the rs13102260 minor (A) variant on the HD disease allele was associated with delayed age of onset in familial cases, whereas the presence of the rs13102260 (A) variant on the wild-type HTT allele was associated with earlier age of onset in HD patients in an extreme case-based cohort. Our findings suggest a previously unknown mechanism linking allele-specific effects of rs13102260 on HTT expression to HD age of onset and have implications for HTT silencing treatments that are currently in development.
Subject(s)
Huntington Disease/genetics , Huntington Disease/metabolism , NF-kappa B/metabolism , Nerve Tissue Proteins/genetics , Polymorphism, Single Nucleotide/genetics , Adult , Age of Onset , Alleles , Cohort Studies , DNA/genetics , Gene Expression Regulation/physiology , Genes, Reporter/genetics , Humans , Huntingtin Protein , Huntington Disease/physiopathology , Middle Aged , Mutagenesis, Site-Directed , Nerve Tissue Proteins/metabolism , Protein BindingABSTRACT
BACKGROUND: This retrospective study evaluates factors that are associated with an inadequate bowel preparation. METHODS: A chart review was performed on 2,101 patients who underwent colonoscopy. The quality of preparation was classified as adequate or inadequate. Univariate and multivariate regression analyses identified factors associated with inadequate preparations. RESULTS: A total of 91.5% of preparations were adequate. Standard preparations using polyethylene glycol-electrolyte solution and sodium picosulfate alone were 91.1% adequate. Regimens with adjuncts were 91.9% adequate. Factors that predicted an inadequate preparation include the following: stroke/dementia (odds ratio [OR] 3.5, 95% confidence interval [CI] 1.6 to 7.7, P = .002), opioids (OR 2.3, 95% CI 1.1 to 4.6, P = .02), male sex (OR 2.0, 95% CI 1.4 to 2.9, P = .000), calcium channel blockers (OR 1.9, 95% CI 1.1 to 3.3, P = .03), and antidepressants (OR 1.7, 95% CI 1.1 to 2.7, P = .02). CONCLUSIONS: Several factors are associated with inadequate preparations. Adjuncts do not improve preparation quality. The effect of patient education on preparation quality is an area for further research.
