| 1. |
- Ek, Weronica E, et al.
(författare)
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Germline genetic contributions to risk for esophageal adenocarcinoma, barrett's esophagus, and gastroesophageal reflux
- 2013
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 105:22, s. 1711-1718
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Tidskriftsartikel (refereegranskat)abstract
- Background Esophageal adenocarcinoma (EA) is an increasingly common cancer with poor survival. Barrett's esophagus (BE) is the main precursor to EA, and every year 0.12% to 0.5% of BE patients progress to EA. BE typically arises on a background of chronic gastroesophageal reflux (GERD), one of the risk factors for EA. Methods We used genome-wide association data to investigate the genetic architecture underlying GERD, BE, and EA. We applied a method to estimate the variance explained (array heritability, h2 g) and the genetic correlation (rg) between GERD, BE, and EA by considering all single nucleotide polymorphisms (SNPs) simultaneously. We also estimated the polygenic overlap between GERD, BE, and EA using a prediction approach. All tests were twosided, except in the case of variance-explained estimation where one-sided tests were used. Results We estimated a statistically significant genetic variance explained for BE (h2 g = 35%; standard error [SE] = 6%; one-sided P = 1 × 10-9) and for EA (h2 g = 25 %; SE = 5%; one-sided P = 2 × 10-7). The genetic correlation between BE and EA was found to be high (rg = 1.0; SE = 0.37). We also estimated a statistically significant polygenic overlap between BE and EA (one-sided P = 1 × 10-6), which suggests, together with the high genetic correlation, that shared genes underlie the development of BE and EA. Conversely, no statistically significant results were obtained for GERD. Conclusions We have demonstrated that risk to BE and EA is influenced by many germline genetic variants of small effect and that shared polygenic effects contribute to risk of these two diseases. © The Author 2013.
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| 2. |
- Tack, Jan, 1962, et al.
(författare)
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A survey on the impact of the COVID-19 pandemic on motility and functional investigations in Europe and considerations for recommencing activities in the early recovery phase
- 2020
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Ingår i: Neurogastroenterology and Motility. - : Wiley. - 1350-1925 .- 1365-2982. ; 32:7
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Tidskriftsartikel (refereegranskat)abstract
- Background The COVID-19 pandemic, declared by WHO on March 13, 2020, had a major global impact on the healthcare system and services. In the acute phase, the presence of the SARS-CoV-2 virus in the aerodigestive tract limited activities in the gastroenterology clinic and procedures to emergencies only. Motility and function testing was interrupted and as we enter the recovery phase, restarting these procedures requires a safety-focused approach with adequate infection prevention for patients and healthcare professionals. Methods We summarized knowledge on the presence of the SARS-CoV-2 virus in the aerodigestive tract and the risk of spread with motility and functional testing. We surveyed 39 European centers documenting how the pandemic affected activities and which measures they are considering for restarting these measurements. We propose recommendations based on current knowledge as applied in our center. Results Positioning of catheters for gastrointestinal motility tests carries a concern for aerosol-borne infection of healthcare workers. The risk is low with breath tests. The surveyed centers stopped almost all motility and function tests from the second half of March. The speed of restarting and the safety measures taken varied highly. Conclusions and Inferences Based on these findings, we provided recommendations and practical relevant information for motility and function test procedures in the COVID-19 pandemic era, to guarantee a high-quality patient care with adequate infection prevention.
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| 3. |
- Simrén, Magnus, 1966, et al.
(författare)
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Nutritional aspects in patients with functional gastrointestinal disorders and motor dysfunction in the gut. Working team report of the Swedish Motility Group (SMoG).
- 2007
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Ingår i: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. - : Elsevier BV. - 1590-8658. ; 39:5, s. 495-504
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Forskningsöversikt (refereegranskat)abstract
- In reviews regarding the management of patients with functional gastrointestinal disorders and motility disturbances within the gut nutritional aspects and dietary advice is often put forward as being of great importance. However, there are relatively few high-quality, interventional studies in the literature supporting an important role for general dietary advice to improve symptoms in these patients. Nutritional supplementation to patients with malnutrition due to severe dysfunction of the gastrointestinal tract is of course less controversial, even though different views on how this should be performed exist. The content of this article is based on presentations given by the authors during the second meeting of the Swedish Motility Group held in Gothenburg in March 2005, and aims to give an overview on the role of dietary advice and nutritional supplementation to patients with gastrointestinal dysfunction of different severity.
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| 4. |
- Staller, K., et al.
(författare)
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Mortality risk in irritable bowel syndrome: Results from a nationwide prospective cohort study
- 2020
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Ingår i: American Journal of Gastroenterology. - : Ovid Technologies (Wolters Kluwer Health). - 0002-9270 .- 1572-0241. ; 115:5, s. 746-755
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Mortality concern is a frequent driver of care seeking in patients with irritable bowel syndrome (IBS). Data on mortality in IBS are scarce, and population-based studies have been limited in size. We examined mortality in IBS. METHODS: A nationwide, matched, population-based cohort study was conducted in Sweden. We identified 45,524 patients undergoing a colorectal biopsy at any of Sweden’s 28 pathology departments and with a diagnosis of IBS from 2002 to 2016 according to the National Patient Register, a nationwide registry of inpatient and outpatient specialty care. We compared the mortality risk between these individuals with IBS and age- and sex-matched reference individuals (n 5 217,316) from the general population and siblings (n 5 53,228). In separate analyses, we examined the role of mucosal appearance for mortality in IBS. Finally, we examined mortality in 41,427 patients with IBS not undergoing a colorectal biopsy. Cox regression estimated hazard ratios (HRs) for death. RESULTS: During follow-up, there were 3,290 deaths in individuals with IBS (9.4/1,000 person-years) compared with 13,255 deaths in reference individuals (7.9/1,000 person-years), resulting in an HR of 1.10 (95% confidence interval [CI] 5 1.05–1.14). After adjustment for confounders, IBS was not linked to mortality (HR 5 0.96; 95% CI 5 0.92–1.00). The risk estimates were neutral when patients with IBS were compared with their siblings. The underlying mucosal appearance on biopsy had only a marginal impact on mortality, and patients with IBS not undergoing a colorectal biopsy were at no increased risk of death (HR 5 1.02; 95% CI 5 0.99–1.06). DISCUSSION: IBS does not seem to confer an increased risk of death. Copyright © 2020 by The American College of Gastroenterology.
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| 5. |
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| 6. |
- Bennet, Sean, et al.
(författare)
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Altered intestinal antibacterial gene expression response profile in irritable bowel syndrome is linked to bacterial composition and immune activation
- 2018
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Ingår i: Neurogastroenterology and Motility. - : Wiley. - 1350-1925. ; 30:12
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Tidskriftsartikel (refereegranskat)abstract
- Background Immune activity and gut microbiota may impact the pathophysiology of irritable bowel syndrome (IBS). We aimed to determine whether antibacterial gene expression of immune activity-defined IBS patients differed compared to healthy subjects (HS) and ulcerative colitis (UC) patients and whether antibacterial profiles reflected gut microbiota composition and IBS symptoms. Methods Key Results Expression of 84 antibacterial genes in biopsies from HS, IBS patients (clustered according to immune activity (systemic and intestinal cytokines): immunonormal or immunoactive), and UC patients was assessed by Human Antibacterial Response RT2 Profiler PCR Array. In IBS patients, 16S rRNA gene sequencing of fecal and mucosal bacteria was performed and symptom pattern and severity were assessed. Intestinal antibacterial gene expression profiles differed between IBS patients (n = 31) and HS (n = 16), but did not differ between IBS subgroups based on bowel habit predominance or symptom severity. Based on previously identified IBS clusters, IBS patients with normal (n = 15) and enhanced immune activity (n = 16) had clearly separate antibacterial gene expression profiles from active UC patients (n = 12) and differed compared to each other and to HS. The differences in antibacterial gene expression profiles between immunonormal and immunoactive IBS patients were also reflected in distinct fecal and mucosal microbiota composition profiles, but not in symptom pattern or severity. Conclusions & Inferences This study demonstrates an altered antibacterial gene expression profile in IBS patients compared to HS and UC patients. While not linked to symptoms, immune activity-defined IBS clusters showed different intestinal antibacterial gene expression and distinct fecal and mucosal bacterial profiles.
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| 7. |
- Berman, Anne H., et al.
(författare)
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Reducing Risky Alcohol Use via Smartphone App Skills Training Among Adult Internet Help-Seekers : A Randomized Pilot Trial
- 2020
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Ingår i: Frontiers in Psychiatry. - : Frontiers Media SA. - 1664-0640. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Alcohol is one of the leading risk factors for global disease burden and overconsumption leads to a wide variety of negative consequences in everyday life. Digital interventions have shown small positive effects in contributing to reductions in problematic use. Specific research on smartphone apps is sparse and the few studies published indicate effects ranging from negative or null to small or moderate. TeleCoach™, a web-based skills training smartphone app, has shown positive effects in non-treatment-seeking university students with excessive drinking. This pilot trial aimed to evaluate app effects in a sample of internet help-seekers from the general population in Sweden. A total of 89 participants were recruited via online advertisement. Following baseline assessment for hazardous use, they were randomized to TeleCoach or a web-based control app offering brief information and advice regarding problematic alcohol use. The primary outcome was number of standard drinks per week; secondary outcomes included drinking quantity and frequency, binge drinking and blood alcohol count measures as well as app user data and comorbidity related to depression, anxiety, and drug use. Analysis of baseline and 6-week follow-up outcomes showed significant within-group effects on alcohol consumption but no significant between-group differences. Effect sizes for the within-group changes in the primary outcome over time were significant [F(1, 55)=43.98; p < 0.001], with a Cohen's d of 1.37 for the intervention group and 0.92 for the control group. This difference in effect sizes indicated that continuation of the study as a large randomized, controlled trial with up to 1,000 participants could be worthwhile.
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| 8. |
- Berman, Anne H., et al.
(författare)
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Skills Training for Reducing Risky Alcohol Use in App Form Among Adult Internet Help-seekers
- 2020
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Ingår i: Annals of Behavioral Medicine. - : Oxford University Press. - 0883-6612 .- 1532-4796. ; 54:S1, s. S417-S417
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Background: Problematic alcohol use in Sweden occurs among 16 % of the adult population. Digital interventions of varying intensity have shown positive effects in contributing to reductions in problematic use, and the TeleCoach app has shown positive effects in non-treatment-seeking university students with excessive drinking (Gajecki et al., 2017). This pilot study evaluated the app among adult internet help-seekers, and motivated continued data collection in the current target group. Methods: Adult internet-help seekers, recruited via advertisement, were included if they scored ³6 (women) or ³8 (men) on the Alcohol Use Disorders Identification Test (AUDIT). Those with depression scores of ³31 on the Montgomery Åsberg Depression Rating Scale (MADRS-S) or problematic drug use scores of ³8 on the Drug Use Disorders Identification Test (DUDIT) were contacted for a telephone interview and included following clinical assessment; if not reached they were excluded. Participants randomized at a 1:1 ratio to the TeleCoach™ web-based app or to a web-based app with information texts from primary care-based self-help material for changing problematic alcohol use. At six-week follow-up, the primary outcome was the number of standard drinks per past week (Timeline-Followback). Results: Of 147 persons assessed for eligibility, 89 were assigned to the intervention group (n=42) or control group (n=47). Average AUDIT levels at baseline were ³18.The baseline number of standard drinks per week was 32.73 (SD 21.16) for the intervention group, and 26 (4.08) for the control group; at 6-week follow-up it was 12.73 (10.52) and 13.48 (11.13) for the intervention and control groups, respectively. No significant between-groups effects occurred, but withingroup changes over time were significant (F(1, 55)=43.98; p< 0.000), with an effect size of 1.37 for the intervention group and 0.92 for the control group. Conclusions: The results suggest that web-based apps can be of help to internet help-seekers motivated to reduce problematic alcohol use. We have proceeded with the planned larger randomized, controlled study and will present 6-week follow-up data for the entire study sample (n=∼1000) in this presentation.
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| 9. |
- Bonfiglio, F., et al.
(författare)
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A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population
- 2017
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Ingår i: Neurogastroenterology and Motility. - : Wiley. - 1350-1925 .- 1365-2982. ; 29:2
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundGastroesophageal reflux disease (GERD), the regurgitation of gastric acids often accompanied by heartburn, affects up to 20% of the general population. Genetic predisposition is suspected from twin and family studies but gene-hunting efforts have so far been scarce and no conclusive genome-wide study has been reported. We exploited data available from general population samples, and studied self-reported reflux symptoms in relation to genome-wide single nucleotide polymorphism (SNP) genotypes. MethodsWe performed a GWAS meta-analysis of three independent population-based cohorts from Sweden, Finland, and UK. GERD cases (n=2247) and asymptomatic controls (n=4503) were identified using questionnaire-derived symptom data. Upon stringent quality controls, genotype data for more than 2.5M markers were used for association testing. Bioinformatic characterization of genomic regions associated with GERD included gene-set enrichment analysis (GSEA), in silico prediction of genetic risk effects on gene expression, and computational analysis of drug-induced gene expression signatures using Connectivity Map (cMap). Key resultsWe identified 30 GERD suggestive risk loci (P5x10(-5)), with concordant risk effects in all cohorts, and predicted functional effects on gene expression in relevant tissues. GSEA revealed involvement of GERD risk genes in biological processes associated with the regulation of ion channel and cell adhesion. From cMap analysis, omeprazole had significant effects on GERD risk gene expression, while antituberculosis and anti-inflammatory drugs scored highest among the repurposed compounds. ConclusionsWe report a large-scale genetic study of GERD, and highlight genes and pathways that contribute to further our understanding of its pathogenesis and therapeutic opportunities.
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| 10. |
- Farre, R., et al.
(författare)
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In Functional Dyspepsia, Hypersensitivity to Postprandial Distention Correlates With Meal-Related Symptom Severity
- 2013
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Ingår i: Gastroenterology. - : Elsevier BV. - 0016-5085. ; 145:3, s. 566-573
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND & AIMS: Hypersensitivity to gastric distention, an important feature of functional dyspepsia, is assessed by stepwise balloon distention of the proximal stomach in fasting patients. However, symptoms of functional dyspepsia are often worse after a meal, so studies of postprandial balloon distentions might be more relevant. We compared the effects of fasting and postprandial stomach distention in patients with functional dyspepsia. METHODS: Twenty healthy controls and 62 patients with functional dyspepsia participated in a gastric barostat study at Leuven University Hospital with graded isobaric distentions before and after a liquid meal. On a separate day, all patients underwent a gastric emptying breath test with assessment of postprandial severity of 6 different dyspeptic symptoms scored at 15-minute intervals for 4 hours. For each symptom, a meal-related severity score was obtained by adding all scores; the cumulative symptom score (CSS) was obtained by adding individual symptom severity scores. RESULTS: In patients, but not in controls, postprandial sensitivity to balloon distention was significantly greater than fasting sensitivity. The CSS and individual symptom scores did not differ between patients with normal or hypersensitivity to fasting distention, but patients who were hypersensitive to postprandial distention had a significantly higher CSS, along with scores for postprandial fullness, bloating, and nausea (all P < .05). On multivariate analysis, hypersensitivity to postprandial distention was associated with hypersensitivity to fasting distention and with impaired accommodation to a meal. CONCLUSIONS: Postprandial, but not fasting, distention thresholds are related to the severity of meal-related symptoms in patients with functional dyspepsia.
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