Perceptions and Practices of Primary Care Providers in Europe and the US in the Diagnosis and Treatment of Irritable Bowel Syndrome: A Multinational Survey

\ua9 2024 The Author(s). Neurogastroenterology & Motility published by John Wiley & Sons Ltd. Background: The knowledge and proficiency of primary care practitioners (PCPs) in diagnosing and managing irritable bowel syndrome (IBS) remain generally low and variable internationally. This variability is partly due to a lack of familiarity with the Rome Foundation diagnostic criteria and treatment guidelines for this condition. Methods: We conducted an electronic survey of PCPs in the United States and nine European countries to assess their understanding of IBS pathophysiology; the use of Rome IV criteria in diagnosis, knowledge of and frequency in prescribing various recommended treatments; and the likelihood of referring patients with suspected IBS to subspecialists. Results: Most PCPs in the United States and Europe perceive IBS as a diagnosis of exclusion rather than a definitive diagnosis. They also believe IBS is underdiagnosed in primary care and challenging to diagnose confidently. The majority of PCPs consider diet as a crucial component of IBS management. Notably, US PCPs reported greater confidence than their European counterparts in recommending dietary interventions such as increased dietary fiber, a low FODMAP diet, and gluten restriction. Conversely, both groups exhibited moderate to high confidence in recommending over-the-counter treatments. European PCPs showed greater confidence in treating IBS with antispasmodics and secretagogues, while US PCPs expressed greater confidence in prescribing neuromodulators. Additionally, US PCPs were more likely to refer patients with suspected IBS to a gastroenterologist, whereas both US and European PCPs showed similar referral patterns to dietitians and referred very few patients to mental health providers. Both US and European PCPs reported that IBS is moderately to extremely difficult to treat effectively and emphasized the importance of a strong and longitudinal doctor-patient relationship in managing the condition. Conclusion: Despite the Rome Foundation recommendations and criteria to support a positive diagnosis of IBS, most PCPs still rely on exclusionary investigations such as endoscopy and a serologic workup, while a significant percentage suggest referring patients to gastroenterologists

Sequence variants associating with urinary biomarkers

Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. We tested 32.5 million sequence variants for association with urinary biomarkers in a set of 150 274 Icelanders with urine dipstick measurements. We detected 20 association signals, of which 14 are novel, associating with at least one of five clinical entities defined by the urine dipstick: glucosuria, ketonuria, proteinuria, hematuria and urine pH. These include three independent glucosuria variants at SLC5A2, the gene encoding the sodium-dependent glucose transporter (SGLT2), a protein targeted pharmacologically to increase urinary glucose excretion in the treatment of diabetes. Two variants associating with proteinuria are in LRP2 and CUBN, encoding the co-transporters megalin and cubilin, respectively, that mediate proximal tubule protein uptake. One of the hematuria-associated variants is a rare, previously unreported 2.5 kb exonic deletion in COL4A3. Of the four signals associated with urine pH, we note that the pH-increasing alleles of two variants (POU2AF1, WDR72) associate significantly with increased risk of kidney stones. Our results reveal that genetic factors affect variability in urinary biomarkers, in both a disease dependent and independent context

A framework for evolutionary systems biology

<p>Abstract</p> <p>Background</p> <p>Many difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often simple to predict. Current systems biology has accumulated much data on mutations with large effects and can predict the properties of knockout mutants in some systems. However experimental methods are too insensitive to observe small effects.</p> <p>Results</p> <p>Here I propose a novel framework that brings together evolutionary theory and current systems biology approaches in order to quantify small effects of mutations and their epistatic interactions <it>in silico</it>. Central to this approach is the definition of fitness correlates that can be computed in some current systems biology models employing the rigorous algorithms that are at the core of much work in computational systems biology. The framework exploits synergies between the realism of such models and the need to understand real systems in evolutionary theory. This framework can address many longstanding topics in evolutionary biology by defining various 'levels' of the adaptive landscape. Addressed topics include the distribution of mutational effects on fitness, as well as the nature of advantageous mutations, epistasis and robustness. Combining corresponding parameter estimates with population genetics models raises the possibility of testing evolutionary hypotheses at a new level of realism.</p> <p>Conclusion</p> <p>EvoSysBio is expected to lead to a more detailed understanding of the fundamental principles of life by combining knowledge about well-known biological systems from several disciplines. This will benefit both evolutionary theory and current systems biology. Understanding robustness by analysing distributions of mutational effects and epistasis is pivotal for drug design, cancer research, responsible genetic engineering in synthetic biology and many other practical applications.</p

Negative Impact of Disorders of Gut-Brain Interaction on Health-related Quality of Life: Results from the Rome Foundation Global Epidemiology Survey.

Background & aims This study, using the database from the Rome Foundation Global Epidemiology Survey, aimed to assess the differences in quality of life overall, and by age and sex, across individual disorders of gut-brain interaction (DGBI), gastrointestinal anatomical region(s), and number of overlapping DGBI. Methods Data were collected via the internet in 26 countries, using the Rome IV diagnostic questionnaire and a supplemental questionnaire including the Patient-Reported Outcomes Measurement Information Systems Global-10 quality of life measure. Factorial ANOVAs were used to explore physical and mental quality of life, adjusting for multiple comparisons. Results Among the 54,127 respondents, quality of life deteriorated significantly with increasing number of overlapping DGBI, with respondents reporting two or more DGBI having significantly poorer quality of life than those with only one DGBI or those without any DGBI. Males with DGBI reported better quality of life than females, and those aged ≥65 years old reported better quality of life than those <65 years. Age, sex, number of overlapping DGBI, somatization, anxiety, depression, and functional experiences (concern, embarrassment, or stress associated with bowel functioning) relating to DGBI, were significant predictors of poorer physical and mental quality of life. Conclusions This study is the most comprehensive assessment of quality of life to date in adults living with a DGBI. It provides a representative picture of DGBI impact on adults in the global adult population, and highlights the significant detrimental impact of living with a DGBI on quality of life

The epidemioflogy and psychological comorbidity of disorders of gut–brain interaction in Australia: Results from the Rome Foundation Global Epidemiology Study

Background: The Rome Foundation Global Epidemiology Study on the disorders of gut–brain interaction (DGBI) was used to assess the national prevalence of all 22 DGBI, the percentage of respondents meeting diagnostic criteria for at least one DGBI, and the rates of comorbid anxiety, depression, and somatization in Australia and 25 other countries. Methods: The survey was conducted in Australia and 25 other countries through the Internet and included the Rome IV Diagnostic Questionnaire and an in-depth supplemental questionnaire. Key Results: Two thousand thirty-six Australian adults completed the survey nationwide: mean age 47.34 ± 17.00 years, 50.15% males. Overall, 38.67% of Australians met criteria for at least one DGBI, with unspecified functional bowel disorder (8.01%) and then functional constipation (7.71%) being the most prevalent. For those Australians with at least one DGBI, rates of anxiety, depression, and somatization where high (26.58%, 28.96%, and 63.10%, respectively), with functional chest pain having the highest rates of anxiety (55.00%) and depression (57.50%), and irritable bowel syndrome (mixed) having the highest somatization rate (75.86%). The odds of having a DGBI increased with greater anxiety (OR: 1.09, CI 95%: 0.97, 1.23), depression (OR: 1.17, CI 95%: 1.04, 1.32), and somatization (OR: 1.17, CI 95%: 1.14, 1.20) symptom severity. Conclusions and Inferences: The current study represents the most comprehensive epidemiological exploration of DGBI and mental health in Australia to date, including their prevalence and distributions across sex and age, associations between DGBI and anxiety, depression, and somatization. The findings warrants future comparisons between population characteristics and health care systems differences in order to reduce the burden of DGBI and mental illness worldwide