Gastroenterology Insights

7 pages, 1920 KiB

Open AccessCase Report

Celiac Disease Presented as Plummer–Vinson Syndrome: A Case Report

by Irina Ciortescu, Roxana Nemțeanu, Ilinca-Maria Chiriac, Gheorghe Bălan, George Aurelian Cocu, Ionuț Alexandru Coșeru, Catalina Mihai and Alina Pleșa

Gastroenterol. Insights 2025, 16(1), 11; https://doi.org/10.3390/gastroent16010011 - 20 Mar 2025

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Abstract

Background and Clinical significance: Plummer–Vinson (PV) syndrome is a rare medical entity diagnosed when iron-deficiency anemia, dysphagia, and esophageal webs occur in the same patient. PV syndrome has been associated with different autoimmune diseases, such as celiac disease (CD). CD is a chronic [...] Read more.

Background and Clinical significance: Plummer–Vinson (PV) syndrome is a rare medical entity diagnosed when iron-deficiency anemia, dysphagia, and esophageal webs occur in the same patient. PV syndrome has been associated with different autoimmune diseases, such as celiac disease (CD). CD is a chronic multisystemic disorder affecting the small intestine, but it is recognized as having a plethora of clinical manifestations secondary to the malabsorption syndrome that accompanies the majority of cases. However, similar to PV syndrome, a high percentage of CD patients are asymptomatic, and those who are symptomatic may present with a wide variety of gastrointestinal and extraintestinal symptoms, including iron-deficiency anemia, making the diagnosis challenging. Case presentation: We present the case of a 43-year-old Caucasian female patient with a 7-year history of iron-deficiency anemia and increased bowel movements (3–4 stools/day). Upper endoscopy demonstrated a narrowing at the proximal cervical esophagus from a tight esophageal stricture caused by a smooth mucosal diaphragm. A 36F Savary–Gilliard dilator was used to manage the stenosis. The distal esophagus and stomach were normal, but scalloping of the duodenal folds was noted, and CD was confirmed by villous atrophy and positive tissue transglutaminase antibodies. Dysphagia was immediately resolved, and a glute-free diet was implemented. Conclusions: The relationship between PV syndrome and CD is still a matter of debate. Some might argue that PV syndrome is a complication of an undiagnosed CD. In cases of PV syndrome, a CD diagnosis should be considered even in the absence of typical symptoms of malabsorption. Full article

(This article belongs to the Special Issue Feature Papers in Celiac Disease)

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14 pages, 2218 KiB

Open AccessReview

Exploring Perianal Fistulas: Insights into Biochemical, Genetic, and Epigenetic Influences—A Comprehensive Review

by Maciej Przemysław Kawecki, Agnieszka Marianna Kruk, Mateusz Drążyk, Zygmunt Domagała and Sławomir Woźniak

Gastroenterol. Insights 2025, 16(1), 10; https://doi.org/10.3390/gastroent16010010 - 7 Mar 2025

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Abstract

The development of perianal fistulas leads to a significant decrease in the quality of patients’ lives. The onset of this condition is dependent on many factors, including inflammation or trauma. In the occurrence of Crohn’s disease-associated fistulas, numerous molecular factors and metabolic pathways [...] Read more.

The development of perianal fistulas leads to a significant decrease in the quality of patients’ lives. The onset of this condition is dependent on many factors, including inflammation or trauma. In the occurrence of Crohn’s disease-associated fistulas, numerous molecular factors and metabolic pathways are involved. To integrate the current knowledge on the biochemical, genetic, and epigenetic factors taking part in the development of perianal fistulas, we conducted a literature review. We gathered and analyzed 45 articles on this subject. The pathophysiology of fistulas associated with Crohn’s disease (CD) involves epithelial–mesenchymal transition (EMT) and matrix remodeling enzymes, with key regulators including transforming growth factor β (TGF-β), tumor necrosis factor α (TNFα), and interleukin-13 (IL-13). Genetic factors, such as mutations in receptor-interacting serine/threonine-protein kinase 1 (RIPK1), interleukin-10 receptor (IL-10R), and the MEFV gene, contribute to the onset and severity of perianal fistulas, suggesting potential therapeutic targets. Understanding the complex interplay of molecular pathways and genetic predispositions offers insights into personalized treatment strategies for this challenging condition. Further research is necessary to elucidate the intricate mechanisms underlying the pathogenesis of perianal fistulas and to identify new therapeutic interventions. Full article

(This article belongs to the Section Gastrointestinal Disease)

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20 pages, 7524 KiB

Open AccessReview

Strategies to Enhance the Adenoma Detection Rate (ADR) and the Serrated Polyp Detection Rate (SPDR) in Colonoscopy: A Comprehensive Review

by Davide Scalvini, Simona Agazzi, Stiliano Maimaris, Laura Rovedatti, Daniele Brinch, Alessandro Cappellini, Carlo Ciccioli, Michele Puricelli, Erica Bartolotta, Daniele Alfieri, Elena Giulia Strada, Lodovica Pozzi, Marco Bardone, Stefano Mazza, Aurelio Mauro and Andrea Anderloni

Gastroenterol. Insights 2025, 16(1), 9; https://doi.org/10.3390/gastroent16010009 - 3 Mar 2025

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Abstract

Introduction: High-quality colonoscopy is influenced by several factors, with the adenoma detection rate (ADR) being one of the most studied indicators. A strong inverse relationship exists between ADR and the risk of developing post-colonoscopy colorectal cancer (PCCRC), prompting the European Society of Gastrointestinal [...] Read more.

Introduction: High-quality colonoscopy is influenced by several factors, with the adenoma detection rate (ADR) being one of the most studied indicators. A strong inverse relationship exists between ADR and the risk of developing post-colonoscopy colorectal cancer (PCCRC), prompting the European Society of Gastrointestinal Endoscopy guidelines to recommend a minimum ADR of 25%. In contrast, there is limited evidence supporting the clinical significance of the serrated polyp detection rate (SPDR), and no specific benchmark was established until a very recent update from the American societies. Main paper: This review examines the factors that influence ADR and SPDR, offering tips to improve these metrics. Effective interventions for enhancing ADR include training, colonoscopy feedback, adequate bowel preparation, longer withdrawal time, water-aided colonoscopy, right colon second look, and chromoendoscopy. The use of cap, devices, and specialized scopes also show promise, though these are often at higher costs. Artificial intelligence has generated great optimism, especially following positive results from early randomized controlled trials; however, its effectiveness has been less pronounced in real-world settings. Conclusions: Many of these approaches require further trials and meta-analyses to establish their ultimate efficacy. Moreover, future clinical head-to-head studies will help to identify the most effective interventions for reducing colorectal cancer incidence and the risk of PCCRC. Full article

(This article belongs to the Section Gastrointestinal Disease)

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13 pages, 551 KiB

Open AccessSystematic Review

Gastrointestinal Pathologies Associated with Thalassemia: A Systematic Review

by Sara Fakeh, Ahmad Masoud, Raneem Abuqtaish, Bayan Salman, Layth Al-Ramahi, Omar AlWahkyan and Dua Abuquteish

Gastroenterol. Insights 2025, 16(1), 8; https://doi.org/10.3390/gastroent16010008 - 27 Feb 2025

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Abstract

Background/Objectives: Thalassemia, a hereditary blood disorder, leads to reduced hemoglobin levels, impairing oxygen transport and negatively impacting patient health. Recent research suggests a possible association between thalassemia and gastrointestinal (GI) symptoms, such as abdominal pain, diarrhea, and GI bleeding, potentially due to immune [...] Read more.

Background/Objectives: Thalassemia, a hereditary blood disorder, leads to reduced hemoglobin levels, impairing oxygen transport and negatively impacting patient health. Recent research suggests a possible association between thalassemia and gastrointestinal (GI) symptoms, such as abdominal pain, diarrhea, and GI bleeding, potentially due to immune compromise and iron overload. This systematic review aims to explore the prevalence and underlying factors of GI pathologies in thalassemia patients, excluding treatment-related effects and iron overload. Methods: A comprehensive search following the PRISMA guidelines was conducted to identify the prevalence and causes of GI disorders in thalassemia patients. Studies assessing non-treatment-related GI symptoms and their links to thalassemia were analyzed. After screening 1902 studies, 13 were included to investigate gastrointestinal manifestations in thalassemia patients. Results: Evidence indicates potential associations between thalassemia and GI disorders, including malabsorption, inflammatory bowel disease, Heliobacter pylori (H. pylori) infection, and celiac disease. Findings highlight immune compromise and iron dysregulation as possible contributing factors. Conclusions: This review highlights the importance of further research into the GI manifestations of thalassemia to enable early detection and improve patient health outcomes and quality of life. Addressing this gap may provide insights into better clinical management strategies for thalassemia patients. Full article

(This article belongs to the Section Gastrointestinal Disease)

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11 pages, 462 KiB

Open AccessSystematic Review

The Effect of Inspiratory Muscle Training on Gastroesophageal Reflux Disease Characteristics: A Systematic Review

by Stylianos Syropoulos, Maria Moutzouri, Eirini Grammatopoulou and Irini Patsaki

Gastroenterol. Insights 2025, 16(1), 7; https://doi.org/10.3390/gastroent16010007 - 12 Feb 2025

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Abstract

Background/Objective: Gastroesophageal reflux disease (GERD) is multifactorial and affects an increasing number of people. It is a common condition in which the stomach contents move up into the esophagus; thus, its main cause is found in the antireflux valve mechanism of the gastroesophageal [...] Read more.

Background/Objective: Gastroesophageal reflux disease (GERD) is multifactorial and affects an increasing number of people. It is a common condition in which the stomach contents move up into the esophagus; thus, its main cause is found in the antireflux valve mechanism of the gastroesophageal junction. This consists of two sphincters, the lower oesophageal and the diaphragmatic. The disease has been related to diaphragm dysfunction, either due to the de-coordination of the diaphragms’ contractility or due to decreased strength. Breathing exercises seem to have a positive effect in this population. The aim of this study was to systematically examine the effects of inspiratory muscle training (IMT) on GERD characteristics. Methods: We conducted a systematic review of research up to April 2024 in Scopus, PubMed, and Science Direct. We included randomized controlled trials (RCTs) and clinical trials assessing the effects of IMT on GERD characteristics. Methodological quality was assessed with the PEDro scale (Physiotherapy Evidence Database) and the Newcastle Ottawa scale (NOC). Results: Among the 1984 studies identified from the search, only three studies (one study with a post-COVID-19 population and two with GERD and healthy subjects) were included in this study, as they presented a fair to high methodological quality. Significant improvements in maximal inspiratory pressure (p < 0.001) and diaphragmatic excursion (p < 0.001) were revealed in one study. No significant differences between groups were mentioned for the reflux symptoms and for LES–EGJ pressure in the studies included. Conclusions: IMT seems to provide promising effects in strengthening the antireflux valve mechanism, as it increases MIP and diaphragmatic excursion. This systematic review established a bibliographic gap for the contribution of IMT in the antireflux valve mechanism. More evidence is needed to support the importance of IMT as a non-pharmacological intervention for GERD patients. Full article

(This article belongs to the Section Gastrointestinal Disease)

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9 pages, 223 KiB

Open AccessArticle

Correlation Between Interleukin IL-6/IL-6 Receptor Polymorphisms (IL6–174C>G and IL6R 1073A>C) and RAS/BRAF Mutations in Patients with Colorectal Cancer

by Ekaterina Smagina, Dar’ya Polit’ko, Vadim Kumeiko, Lyudmila Gurina and Anna Stenkova

Gastroenterol. Insights 2025, 16(1), 6; https://doi.org/10.3390/gastroent16010006 - 6 Feb 2025

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Abstract

Background: Chronic inflammation is an important factor in the development and progression of colorectal cancer (CRC). One of the key participants of chronic inflammation is interleukin-6 (IL-6), which enhances tumor malignancy. Some of the genetic markers characterizing the IL-6/STAT3/JAK pathway are functional polymorphisms [...] Read more.

Background: Chronic inflammation is an important factor in the development and progression of colorectal cancer (CRC). One of the key participants of chronic inflammation is interleukin-6 (IL-6), which enhances tumor malignancy. Some of the genetic markers characterizing the IL-6/STAT3/JAK pathway are functional polymorphisms in IL6 and IL6R genes. Hyperexpression of IL-6 and increasing concentrations of the soluble form, IL-6R, may be one possible option for cross-activation of MAPK signaling. Methods: Detection of rs1800795 and rs2228145 SNPs was carried out using allele-specific PCR. The mutations of RAS and BRAF genes in tumors were determined by pyrosequencing. Results: The allele and genotype distributions of IL6 rs1800795 (−174C>G) and IL6R rs2228145 (1073A>C) were significantly different between the CRC and control groups. Thus, the risks of CRC developing in carriers of the homozygous G/G rs1800795 and C/C rs2228145 genotypes were 2.05- and 1.85-fold higher. Also, we identified a relationship between the studied SNPs and somatic activating mutations in the RAS and BRAF genes. It was found that the G/G rs1800795 and C/C rs2228145 genotypes are significantly more common in the group of patients without activating mutations in the RAS and BRAF genes. Conclusions: Understanding the impact of genetic factors not only on cancer predisposition but the evolution of cancer cells will help to derive novel predictive markers and therapy options. Full article

(This article belongs to the Collection Advances in Gastrointestinal Cancer)

13 pages, 3108 KiB

Open AccessArticle

MicroRNA 133A Regulates Squalene Epoxidase Expression in Colorectal Cancer Cells to Control Cell Proliferation and Cholesterol Production

by Ji-Su Mo, Santosh Lamichhane, Grinsun Sharma and Soo-Cheon Chae

Gastroenterol. Insights 2025, 16(1), 5; https://doi.org/10.3390/gastroent16010005 - 9 Jan 2025

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Abstract

Background/Objectives: Colorectal cancer (CRC) is one of the most common cancers worldwide, with high incidence and mortality rates. MicroRNAs are endogenous and non-coding RNAs that play a pivotal role in the development and progression of various cancers by targeting specific genes. Previously, we [...] Read more.

Background/Objectives: Colorectal cancer (CRC) is one of the most common cancers worldwide, with high incidence and mortality rates. MicroRNAs are endogenous and non-coding RNAs that play a pivotal role in the development and progression of various cancers by targeting specific genes. Previously, we identified MIR133A to be significantly decreased in human CRC tissues. This study aims to identify the relationship with SQLE, one of the candidate target genes of MIR133A, and study their interaction in CRC cells. Methods: Through the luciferase reporter assay, quantitative RT-PCR (qRT-PCR), and Western blot analysis. Results: We identified SQLE as a direct target gene of MIR133A. Using the MIR133A KI cell lines, which knocked-in MIR133A1 or MIR133A2 in CRC cell lines, and CRC cells transfected with siSQLE, we found that MIR133A regulated the proliferation and migration of CRC cells by modulating SQLE-mediated PIK3CA-AKT1 and CYP24A1 signaling. We also found that cholesterol production was regulated by MIR133A in CRC cells. Conclusions: Our results suggest that MIR133A is an important therapeutic target for colorectal cancer. Full article

(This article belongs to the Special Issue Novelties in Colorectal Surgery and Proctology)

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11 pages, 734 KiB

Open AccessArticle

Temporal Trends in Biologic Prescriptions for Patient with Inflammatory Bowel Disease: A Retrospective Cohort Study

by Sunimal Fernando, Reeham Abu-Rgeef, Shankar Menon, Kenji So, Kannan Venugopal and Sherman Picardo

Gastroenterol. Insights 2025, 16(1), 4; https://doi.org/10.3390/gastroent16010004 - 9 Jan 2025

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Abstract

Background: Biologic therapies, such antitumour necrosis factor-alpha agents (infliximab and adalimumab), as well as newer agents (ustekinumab and vedolizumab), all have well-demonstrated safety and efficacy profiles in the management of inflammatory bowel disease (IBD). The choice of an optimal first-line biologic remains unclear [...] Read more.

Background: Biologic therapies, such antitumour necrosis factor-alpha agents (infliximab and adalimumab), as well as newer agents (ustekinumab and vedolizumab), all have well-demonstrated safety and efficacy profiles in the management of inflammatory bowel disease (IBD). The choice of an optimal first-line biologic remains unclear due to a lack of comparative randomised trials and real-world studies; however, certain patient and disease characteristics may influence this choice. The aims of this study were to explore temporal trends in the choice of a first-line biologic therapy and the factors that influence this choice. Methodology: This study is a retrospective observational cohort study of all patients with IBD who commenced induction and completed at least one maintenance dose of a biologic therapy between 1 January 2015 and 31 December 2021. Relevant patient and disease-specific factors were collected, including history of malignancy and opportunistic infections at time of diagnosis, for each eligible patient. Factors affecting the choice of biologic therapy were compared using ANOVA and chi-square tests. Results: 280 patients were included in the study. Ustekinumab has overtaken infliximab and adalimumab as the first-line choice for Crohn’s disease since its introduction in 2018. Infliximab has remained the preferred first-line therapy for ulcerative colitis over adalimumab and vedolizumab. Ustekinumab has become he preferred biologic agent for older patients and those with a history of malignancy. Conclusions: Whilst an older agent such as infliximab is still preferred for the management of UC, novel agents such as ustekinumab are now more readily considered as a first-line agent for the management of CD. Full article

(This article belongs to the Section Gastrointestinal Disease)

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14 pages, 2417 KiB

Open AccessArticle

Reevaluation of an Established In Vivo Gastric Vessel Bleed Model for Hemostatic Device Safety and Efficacy Testing

by Jessica L. Grimsby, Matthew D. Szkolnicki and Kevin A. Wood

Gastroenterol. Insights 2025, 16(1), 3; https://doi.org/10.3390/gastroent16010003 - 7 Jan 2025

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Abstract

Background: For over a decade, endoscopic hemostatic powders have been used to manage upper gastrointestinal bleeding (UGIB). Various preclinical benchtop and animal models have been developed to evaluate these devices. Multiple companies have released hemostatic powders to market, assessing their safety and efficacy [...] Read more.

Background: For over a decade, endoscopic hemostatic powders have been used to manage upper gastrointestinal bleeding (UGIB). Various preclinical benchtop and animal models have been developed to evaluate these devices. Multiple companies have released hemostatic powders to market, assessing their safety and efficacy using an established porcine gastric vessel bleed model. The model requires inserting an artery segment into the gastric lumen, which is then punctured to produce a bleed. This simulates an aggressive arterial bleed, allowing hemostatic prototype devices to be tested under challenging conditions. Methods: We aimed to evaluate the relationship between intragastric pressure and bleed severity by injecting the gas used to deliver hemostatic powder to the bleed site without administering the hemostatic powder. Results: Our results indicate that elevated intragastric pressures alone can cause bleed cessation. Additional findings suggest that other factors in the model can lead to false positive hemostasis. Conclusions: This study highlights limitations in the current state porcine gastric vessel bleed model. The results underscore the importance of vetting preclinical models before acquiring efficacy data and the need to develop more robust and effective bleed models for testing hemostatic devices. Full article

(This article belongs to the Section Gastrointestinal Disease)

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10 pages, 420 KiB

Open AccessArticle

Screening Colonoscopy Uptake Among Adult Stroke Survivors: Findings from the 2022 BRFSS Data

by Benjamin E. Ansa, Alaina Head, Zola Johnson, Wonder King Selassie Hatekah, Beulah Ansa and Darryl Nettles

Gastroenterol. Insights 2025, 16(1), 2; https://doi.org/10.3390/gastroent16010002 - 6 Jan 2025

Viewed by 1226

Abstract

Background/Objectives: Colorectal cancer (CRC) is the second leading cause of cancer-related deaths globally. Screening for cancer helps to prevent comorbid conditions among individuals with chronic medical conditions, such as stroke. The gold standard for CRC screening is colonoscopy. Stroke is the fifth [...] Read more.

Background/Objectives: Colorectal cancer (CRC) is the second leading cause of cancer-related deaths globally. Screening for cancer helps to prevent comorbid conditions among individuals with chronic medical conditions, such as stroke. The gold standard for CRC screening is colonoscopy. Stroke is the fifth leading cause of death in the United States and a leading cause of long-term disability. This study examined the prevalence of screening colonoscopy among individuals who reported ever having had a stroke (stroke survivors). Methods: The 2022 Behavioral Risk Factor Surveillance System (BRFSS) data were analyzed for the weighted prevalence and odds of screening colonoscopy uptake among adults aged 45 years and older, based on having had a stroke and socioeconomic status. Results: Almost 6% (n = 16,371) of the adults included in the analysis (N = 285,329) reported having had a stroke, and the weighted prevalence of screening colonoscopy for this group was 73.3% compared to 67.8% for those without stroke. Stroke survivors were 1.3 times more likely to have had a screening colonoscopy compared to those without a history of stroke. Higher odds of screening colonoscopy uptake were observed among stroke survivors that were older than 45–49 years old, with high school or greater than high school education. Stroke survivors that were multiracial and without health insurance coverage had lower odds of screening colonoscopy uptake compared to those that were white and had health insurance coverage, respectively. Conclusions: Though adult stroke survivors, compared to those without a stroke, are more likely to report having had a screening colonoscopy, differences in screening colonoscopy uptake were observed among subgroups of this population based on sociodemographic status. Tailored interventions are needed for increasing screening colonoscopy uptake among disadvantaged subgroups. Full article

(This article belongs to the Special Issue Novelties in Colorectal Surgery and Proctology)

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14 pages, 1160 KiB

Open AccessArticle

Smoking and Risk of Fatty Liver Disease: A Meta-Analysis of Cohort Studies

by Moonhyung Lee, Seung-Kwon Myung, Sang Hee Lee and Yoosoo Chang

Gastroenterol. Insights 2025, 16(1), 1; https://doi.org/10.3390/gastroent16010001 - 2 Jan 2025

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Abstract

Background/Objectives: It remains inconclusive whether or not smoking is associated with an increased risk of fatty liver disease (FLD). We investigated the association between smoking and the risk of FLD by using a meta-analysis of cohort studies. Methods: PubMed and EMBASE [...] Read more.

Background/Objectives: It remains inconclusive whether or not smoking is associated with an increased risk of fatty liver disease (FLD). We investigated the association between smoking and the risk of FLD by using a meta-analysis of cohort studies. Methods: PubMed and EMBASE were searched using keywords from their inception to September 2023 to identify relevant studies. Results: Out of 806 articles searched from the databases, a total of 20 cohort studies were included in the final analysis. In the meta-analysis, smoking was significantly associated with an increased risk of FLD (odds ratio/relative risk/hazard ratio, 1.14; 95% confidence interval, 1.05–1.24; n = 20). Subgroup analyses showed a significant positive association between them in prospective cohort studies (odds ratio/relative risk/hazard ratio, 1.15; 95% confidence interval, 1.05–1.18; n = 5) but not in retrospective cohort studies and cross-sectional studies based on cohort studies. In the subgroup meta-analysis by gender in Asians, smoking significantly increased the risk of FLD in men, while there was no significant association between FLD and smoking in women. Conclusions: This meta-analysis showed that smoking increases the risk of FLD. In addition to well-known risk factors of FLD, clinicians should recommend smoking cessation for the management of FLD. Full article

(This article belongs to the Section Liver)

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Gastroenterol. Insights, Volume 16, Issue 1 (March 2025) – 11 articles

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