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Keywords = extraintestinal manifestations

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15 pages, 664 KiB  
Article
Real-World Safety of Vedolizumab in Inflammatory Bowel Disease: A Retrospective Cohort Study Supported by FAERS Signal Analysis
by Bojana Milašinović, Sandra Vezmar Kovačević, Srđan Marković, Marija Jovanović, Tamara Knežević Ivanovski, Đorđe Kralj, Petar Svorcan, Branislava Miljković and Katarina Vučićević
Pharmaceuticals 2025, 18(8), 1127; https://doi.org/10.3390/ph18081127 - 28 Jul 2025
Viewed by 383
Abstract
Background/Objectives: Vedolizumab is a gut-selective anti-integrin monoclonal antibody approved for the treatment of inflammatory bowel disease (IBD). While clinical trials have demonstrated a favorable safety profile, real-world studies are essential for identifying rare adverse events (AEs) and evaluating post-marketing safety. This study [...] Read more.
Background/Objectives: Vedolizumab is a gut-selective anti-integrin monoclonal antibody approved for the treatment of inflammatory bowel disease (IBD). While clinical trials have demonstrated a favorable safety profile, real-world studies are essential for identifying rare adverse events (AEs) and evaluating post-marketing safety. This study assessed vedolizumab’s safety in a real-world cohort and supported the detection of potential safety signals. Methods: A retrospective chart review was conducted on adult IBD patients treated with vedolizumab at a tertiary center in the Republic of Serbia between October 2021 and August 2022. Data included demographics, AEs, and newly reported extraintestinal manifestations (EIMs). Exposure-adjusted incidence rates were calculated per 100 patient-years (PYs). Disproportionality analysis using the FDA Adverse Event Reporting System (FAERS) was performed to identify safety signals, employing reporting odds ratios (RORs) and proportional reporting ratios (PRRs) for AEs also observed in the cohort. Prior IBD therapies and reasons for discontinuation were evaluated. Results: A total of 107 patients (42.1% Crohn’s disease, 57.9% ulcerative colitis) were included, with a median vedolizumab exposure of 605 days. There were 92 AEs (56.51/100 PYs), most frequently infections (23.95/100 PYs), gastrointestinal disorders (4.30/100 PYs), and skin disorders (4.30/100 PYs). The most frequently reported preferred terms (PTs) included COVID-19, COVID-19 pneumonia, nephrolithiasis, and nasopharyngitis. Arthralgia (12.90/100 PYs) was the most frequent newly reported EIM. No discontinuations due to vedolizumab AEs occurred. FAERS analysis revealed potential signals for events not listed in prescribing information but observed in the cohort: nephrolithiasis, abdominal pain, diarrhea, malaise, cholangitis, gastrointestinal infection, blood pressure decreased, weight decreased, female genital tract fistula, respiratory symptom, and appendicectomy. Most patients had received three prior therapies, often stopping one due to AEs. Conclusions: Vedolizumab demonstrated a favorable safety profile in the IBD cohort. However, FAERS-identified signals, such as nephrolithiasis, gastrointestinal infections, and decreased blood pressure, warrant further investigation in larger, more diverse populations. Full article
(This article belongs to the Special Issue Therapeutic Drug Monitoring and Adverse Drug Reactions: 2nd Edition)
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13 pages, 1732 KiB  
Article
Clinical and Phenotypic Characteristics of Early-Onset Inflammatory Bowel Disease: A Five-Year Observational Study
by Ivan S. Samolygo, Marina A. Manina, Ekaterina A. Yablokova, Pavel A. Stribul, Alexander V. Novikov, Anton S. Antishin, Albina S. Pestova, Alexander S. Tertychnyy, Daniel Munblit and Svetlana I. Erdes
Children 2025, 12(7), 952; https://doi.org/10.3390/children12070952 - 18 Jul 2025
Viewed by 346
Abstract
Background: Inflammatory bowel diseases with an early-onset form (EO-IBDs) make up a special disease group with certain clinical and phenotypic characteristics. This article discusses the features of such early onset in a group of children, based on five years of monitoring a registry [...] Read more.
Background: Inflammatory bowel diseases with an early-onset form (EO-IBDs) make up a special disease group with certain clinical and phenotypic characteristics. This article discusses the features of such early onset in a group of children, based on five years of monitoring a registry of children with IBD from a specialized center. Methods: This retrospective single-center cohort study included pediatric patients diagnosed with EO-IBD between 2019 and 2024. Clinical, laboratory, and endoscopic data were collected from medical records, including fecal calprotectin, inflammatory markers, disease activity indices, and endoscopic severity scores. Localization was classified according to the Paris system, and histological activity was assessed using the IBD-DCA score. Results: There were 20 patients with ulcerative colitis (UC) and 17 with Crohn’s disease (CD). Clinical activity was moderate or high (p = 0.179). UC was more characterized by diarrhea and rectal bleeding. CD was more often accompanied by abdominal pain, weight loss, and fever. In total, 82.4% of patients with CD had an inflammatory form. UC-like intestinal lesion was typical of both nosologies—L3 64.7% and E4 60% forms in CD and UC, respectively. Morphological activity was moderate for both nosologies (p = 0.54). IBD-U was present in 43.2% of patients. The median time after which it was possible to diagnose UC was 24 weeks (IQR 20–48) and 40 weeks (IQR 30–45.5) for CD (p = 0.56). Conclusions: Our study confirms the presence of characteristic signs of EO-IBD development, such as a frequent family history of IBD, high or moderate clinical activity during diagnosis verification, colon damage, and a high frequency of extraintestinal manifestations. Full article
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19 pages, 383 KiB  
Review
Extraintestinal Manifestations of Clostridioides difficile Infections: An Overview
by Konstantinos Mpakogiannis, Fotios S. Fousekis, Stylianos Elemes, Evangelos Mantellos, Eirini Christaki and Konstantinos H. Katsanos
Antibiotics 2025, 14(7), 670; https://doi.org/10.3390/antibiotics14070670 - 2 Jul 2025
Viewed by 859
Abstract
Introduction: Clostridioides difficile (C. difficile) is primarily associated with colonic disease, including pseudomembranous colitis. However, in rare instances, it may cause extraintestinal infectious and non-infectious manifestations, particularly in immunocompromised patients or those with significant underlying conditions. Search Methods: A literature review [...] Read more.
Introduction: Clostridioides difficile (C. difficile) is primarily associated with colonic disease, including pseudomembranous colitis. However, in rare instances, it may cause extraintestinal infectious and non-infectious manifestations, particularly in immunocompromised patients or those with significant underlying conditions. Search Methods: A literature review was performed using PubMed, Embase, and Researchgate databases up to 15 February 2025. The following search strings were used: “extraintestinal manifestations”, “extracolonic manifestations”, “extraintestinal infections”, “extracolonic infections”, “Clostridium difficile”, and “Clostridioides difficile”. Results: Extraintestinal manifestations of C. difficile appear to represent fewer than 1% of all reported infections. The most frequently reported infectious complications include bacteremia and abdominopelvic infections and abscesses, often involving polymicrobial cultures, with the isolation of C. difficile alongside microorganisms typically found in the normal intestinal microbiota. Rare non-infectious cases, such as reactive arthritis, have also been described. The underlying pathogenetic mechanism is believed to involve disruption of the intestinal barrier and translocation of bacteria or toxins to sterile sites. Conclusions: Though rare, extraintestinal C. difficile manifestations pose important clinical challenges. Better understanding of their mechanisms is essential for early recognition and appropriate management. Further research is warranted to define potential mechanisms and therapeutic approaches. Full article
6 pages, 1660 KiB  
Case Report
Three Autochthonous Cases of Amoebic Liver Abscess Clustered in a Small Village of Tuscany (Central Italy), a Non-Endemic Area
by Giuseppantonio Maisetta, Sara Moneta, Benedetta Tuvo, Cesira Giordano, Paola Alessandra Petrocelli, Giovanni Tincani, Daniela Campani, Davide Ghinolfi, Marco Falcone, Fabrizio Bruschi and Antonella Lupetti
Pathogens 2025, 14(7), 609; https://doi.org/10.3390/pathogens14070609 - 20 Jun 2025
Viewed by 620
Abstract
Amebiasis is a rare condition in industrialised countries but is epidemiologically growing. Clinical manifestations may range from asymptomatic to invasive disease. An amebic abscess can be the result of extraintestinal amebiasis, and it is associated with relatively high morbidity and mortality. We present [...] Read more.
Amebiasis is a rare condition in industrialised countries but is epidemiologically growing. Clinical manifestations may range from asymptomatic to invasive disease. An amebic abscess can be the result of extraintestinal amebiasis, and it is associated with relatively high morbidity and mortality. We present three indigenous cases of amoebic liver abscesses observed within a few weeks (October–November 2023) in patients living in a small area near Lucca in Tuscany, Central Italy. Fever accompanied by abdominal pain and liver abscess was observed in all three patients, and one of them presented necrotising colitis and pleural effusion, too. The parasitological diagnosis was performed by microscopy and confirmed with real-time PCR in liver abscess drainage fluid and stools. Full article
(This article belongs to the Section Parasitic Pathogens)
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23 pages, 1695 KiB  
Article
Prediction of Extraintestinal Manifestations in Inflammatory Bowel Disease Using Clinical and Genetic Variables with Machine Learning in a Latin IBD Group
by Tamara Pérez-Jeldres, Paula Reyes-Pérez, Patricio Gonzalez-Hormazabal, Cristóbal Avendano, Roberto Segovia Melero, Lorena Azocar, Veronica Silva, Andres De La Vega, Elizabeth Arriagada, Elisa Hernandez, Nataly Aguilar, Carolina Pavez-Ovalle, Cristian Hernández-Rocha, Roberto Candia, Juan Francisco Miquel, Manuel Alvarez-Lobos, Ivania Valdes, Alejandra Medina-Rivera and Maria Leonor Bustamante
Int. J. Mol. Sci. 2025, 26(12), 5741; https://doi.org/10.3390/ijms26125741 - 15 Jun 2025
Viewed by 667
Abstract
Extraintestinal manifestations (EIMs) significantly increase morbidity in inflammatory bowel disease (IBD) patients. In this study, we examined clinical and genetic factors associated with EIMs in 414 Latin IBD patients, utilizing machine learning for predictive modeling. In our IBD group (314 ulcerative colitis (UC) [...] Read more.
Extraintestinal manifestations (EIMs) significantly increase morbidity in inflammatory bowel disease (IBD) patients. In this study, we examined clinical and genetic factors associated with EIMs in 414 Latin IBD patients, utilizing machine learning for predictive modeling. In our IBD group (314 ulcerative colitis (UC) and 100 Crohn’s disease (CD) patients), EIM presence was assessed. Clinical differences between patients with and without EIMs were analyzed using Chi-square and Mann–Whitney U tests. Based on the genetic data of 232 patients, we identified variants linked to EIMs, and the polygenic risk score (PRS) was calculated. A machine learning approach based on logistic regression (LR), random forest (RF), and gradient boosting (GB) models was employed for predicting EIMs. EIMs were present in 29% (120/414) of patients. EIM patients were older (52 vs. 45 years, p = 0.01) and were more likely to have a family history of IBD (p = 0.02) or use anti-TNF therapy (p = 0.01). EIMs were more common in patients with CD than in those with UC without reaching statistical significance (p = 0.06). Four genetic variants were associated with EIM risk (rs9936833, rs4410871, rs3132680, and rs3823417). While the PRS showed limited predictive power (AUC = 0.69), the LR, GB, and RF models demonstrated good predictive capabilities. Approximately one-third of IBD patients experienced EIMs. Significant risk factors included genetic variants, family history, age, and anti-TNF therapy, with predictive models effectively identifying EIM risk. Full article
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17 pages, 1536 KiB  
Systematic Review
Prevalence of Joint Complaints in Patients with Celiac Disease: A Systematic Review and Meta-Analysis
by Dimitri Poddighe, Gulsamal Zhubanova, Dinara Galiyeva, Kamilla Mussina and Anders Forss
J. Clin. Med. 2025, 14(11), 3740; https://doi.org/10.3390/jcm14113740 - 27 May 2025
Viewed by 549
Abstract
Background: Current evidence suggests that joint complaints can represent an extra-intestinal manifestation in patients with Celiac Disease (CD) without any rheumatic comorbidity. However, the prevalence of joint complaints in the context of both CD and rheumatic disease is not known. The aim [...] Read more.
Background: Current evidence suggests that joint complaints can represent an extra-intestinal manifestation in patients with Celiac Disease (CD) without any rheumatic comorbidity. However, the prevalence of joint complaints in the context of both CD and rheumatic disease is not known. The aim of this study was to estimate the prevalence of joint complaints in patients with CD. Methods: We searched Medline, Embase, Cochrane, and Web of Science databases for studies reporting joint complaints in patients with CD between 1 January 1990 and 26 November 2024. Search results were screened by two independent reviewers. The pooled prevalence of joint complaints was estimated in meta-analysis using a random effects model. We conducted stratified analyses by region, age (adults vs. children), and study sample size. The Joanna Briggs Institute Critical Appraisal Tool was used to evaluate the quality of included studies, and publication bias was assessed using a funnel plot and Egger’s test. The study protocol was pre-registered in the PROSPERO database and the results were reported according to the PRISMA guidelines. Results: A total of 7414 publications were rendered in the search. Of these, 226 were reviewed in full text and 27 were included in the meta-analysis. Among 6901 patients with CD without any concomitant rheumatic diagnosis, 530 had joint complaints, yielding a weighted pooled prevalence of 10.7% (95%CI: 6.9–15.1). In meta-regression analysis, no association between the prevalence of joint complaints and patients’ clinical characteristics or demographics was found. Conclusions: This meta-analysis indicates that joint complaints in patients with CD without any specific rheumatic comorbidity are not uncommon. Increased awareness of joint complaints in CD is important to improve the diagnosis and clinical care of these patients. Full article
(This article belongs to the Special Issue Future Trends in the Diagnosis and Management of Celiac Disease)
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15 pages, 293 KiB  
Article
Clinical and Genetic Characteristics of Pediatric Patients with Inflammatory Bowel Disease Transitioning to Adult Medicine: A Single-Center Ten-Year Experience
by Giammarco Mocci, Giorgia Orrù, Francesca Maria Onidi, Mara Corpino, Antonella Marongiu, Giovanni Maria Argiolas, Matteo Runfola, Romina Manunza, Giorgia Locci, Elisabetta Tamponi, Teresa Zolfino, Paolo Usai Satta, Alessandro Muscas, Rossano Rossino, Salvatore Savasta and Mauro Congia
J. Clin. Med. 2025, 14(11), 3741; https://doi.org/10.3390/jcm14113741 - 27 May 2025
Viewed by 628
Abstract
Background/Objectives: Inflammatory bowel diseases (IBDs) comprise a group of chronic idiopathic disorders, including ulcerative colitis (UC), Crohn’s disease (CD), and indeterminate colitis (IC). Complex genetic factors, in addition to environmental triggers, have been shown to play a fundamental role in the pathogenesis [...] Read more.
Background/Objectives: Inflammatory bowel diseases (IBDs) comprise a group of chronic idiopathic disorders, including ulcerative colitis (UC), Crohn’s disease (CD), and indeterminate colitis (IC). Complex genetic factors, in addition to environmental triggers, have been shown to play a fundamental role in the pathogenesis of IBD, contributing to disease susceptibility. The transition of adolescents with inflammatory bowel disease (IBD) to adult care represents a significant challenge for patients, their families, and healthcare providers. Approximately 25% of individuals with IBD receive a diagnosis before the age of 16, and this population is at increased risk for adverse clinical outcomes. As a result, the transition of care has garnered substantial attention in the scientific and clinical communities over the past decade. This study aims to analyze a cohort of pediatric Sardinian patients with IBD to assess clinical characteristics at diagnosis and at the time of transition and determine potential correlations between NOD2/CARD15 gene variants and HLA class II with the disease phenotype. Methods: From January 2014 to August 2024, we performed an observational, cross-sectional study that included pediatric patients with IBD enrolled in the only pediatric IBD reference center in Sardinia. Data were obtained from the patients’ medical records and from a questionnaire administered at the inclusion visit. In addition, we genotyped a portion of our cohort for the Leu1007fsinsC (SNP13), Gly908Arg (SNP12), and Arg702Trp (SNP8) variants of the NOD2/CARD15 gene, as well as for HLA-DRB1, -DQA1, and -DQB1 class II genes. The obtained results were compared with pediatric data from the national epidemiological IBD registry and existing literature. Results: Seventy-one IBD patients were enrolled (UC 43, CD 28, M 34, F 37). Median age at diagnosis was 12.2 years (IQR 2–17). After a median disease duration of 5 years (IQR: 1–16), only three UC patients experienced proximal extension of proctitis or left-sided colitis, and no CD patients experienced new localizations of disease. Fifteen patients developed extraintestinal manifestations. No significant difference was found in median diagnostic delay (DD) between UC [4 months (IQR: 1–84)] and CD patients [4.5 months (IQR: 1–48)]. At the transition visit, overall, twenty-nine patients (42%) were exposed to one biologic agent (vs. 3% at baseline; p < 0.02); 3 patients (4%) were exposed to two or more biologic agents. 7% of patients (5/71) underwent surgery. By comparing the distribution of NOD2/CARD15 SNPs between pediatric patients and an adult CD population, we found a significant association between gene allelic variants and pediatric onset (p = 0.00048). Our study also revealed a statistically significant association between Sardinian pediatric patients carrying NOD2/CARD15 mutations and early-onset CD (p < 0.009492), along with a stenosing phenotype (p < 0.024) and increased surgical risk (p < 0.026). No significant associations were observed between HLA class II alleles and IBD in our population. Conclusions: Our results provide important insights into the clinical and epidemiological features of the pediatric IBD population. In addition, our study highlights the significant role of NOD2/CARD15 gene polymorphisms in pediatric onset CD. These variants influence the age of onset and disease phenotype, characterized by greater severity and a higher risk of surgical intervention in pediatric patients. Full article
10 pages, 843 KiB  
Article
Multicenter Evaluation of the First Validated German-Language Fatigue Questionnaire for Patients with Chronic Inflammatory Bowel Diseases
by Magnus Müller, Franziska Schulz, Vidan Tadic, Anna Muzalyova, Johanna Classen, Ulrike Denzer, Irina Blumenstein and Elisabeth Schnoy
J. Clin. Med. 2025, 14(11), 3618; https://doi.org/10.3390/jcm14113618 - 22 May 2025
Viewed by 455
Abstract
Background: Patients with inflammatory bowel disease (IBD) often suffer from extra-intestinal manifestations in addition to intestinal symptoms. One of these is fatigue. Fatigue is described as persistent tiredness with episodes of sudden energy loss, which cannot be relieved by rest or sleep [...] Read more.
Background: Patients with inflammatory bowel disease (IBD) often suffer from extra-intestinal manifestations in addition to intestinal symptoms. One of these is fatigue. Fatigue is described as persistent tiredness with episodes of sudden energy loss, which cannot be relieved by rest or sleep and has a huge impact on quality of life. The aim of this study is to identify possible risk and influencing factors for the development of fatigue in IBD. Methods: For this purpose, a questionnaire survey was conducted at two German university outpatient clinics for IBD (n = 164). Based on this, the frequency and impact of fatigue on daily life was assessed and analyzed in relation to various health parameters such as patient gender, age, disease activity, and laboratory parameters. Results: Of the 164 patients, 86 were men (52.4%) and 78 were women (47.6%). A total of 75 (45.7%) patients had ulcerative colitis, 84 (51.2%) suffered from Crohn’s disease, and 5 (3.0%) had IBD-unclassified. A total of 17 out of the 164 (10.4%) patients denied that fatigue had affected their daily activities in the past two weeks. None of the examined health parameters had a significant impact on fatigue. Conclusions: Fatigue is a common syndrome in IBD patients and affects their daily activities and quality of life. The results of the present study emphasize the need for further research for a better scientific understanding of fatigue in IBD. Full article
(This article belongs to the Section Gastroenterology & Hepatopancreatobiliary Medicine)
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14 pages, 3409 KiB  
Review
Neutrophils at the Crossroads of Inflammatory Bowel Disease and Atherosclerosis: A State-of-the-Art Review
by Vadim Genkel, Yana Zaripova, Alla Kuznetsova, Alena Sluchanko, Anna Minasova, Maria Zotova, Anna Saenko, Albina Savochkina and Anastasiya Dolgushina
Cells 2025, 14(10), 738; https://doi.org/10.3390/cells14100738 - 18 May 2025
Viewed by 882
Abstract
Inflammatory bowel disease (IBD) is a growing global problem, particularly in regions with low sociodemographic indices and growing populations. IBD incidence is increasing among children and adolescents, leading to a growing economic burden. The prevalence of atherosclerotic cardiovascular diseases among patients with IBD [...] Read more.
Inflammatory bowel disease (IBD) is a growing global problem, particularly in regions with low sociodemographic indices and growing populations. IBD incidence is increasing among children and adolescents, leading to a growing economic burden. The prevalence of atherosclerotic cardiovascular diseases among patients with IBD is also higher than in the general population. While mortality rates have decreased, cardiovascular disease (CVD) remains a significant contributor to mortality and disability in IBD patients. According to the current understanding, neutrophils play an important role in both the atherogenesis and pathogenesis of IBD. This review addresses the state of the art of neutrophil involvement in the development of atherosclerosis and IBD. In the present review, we summarize the currently available evidence regarding neutrophils as a possible key driver of extraintestinal manifestations of IBD and cardiovascular complications. We provide a discussion on the potential role of neutrophil-derived markers in the development of new approaches for the precise diagnosis of atherosclerosis in patients with IBD, as well as new therapeutic targets. Full article
(This article belongs to the Section Cells of the Cardiovascular System)
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10 pages, 5313 KiB  
Article
Accuracy of Imaging Scoring Indexes in Pediatric Crohn’s Disease Patients
by Goran Hauser, Goran Palčevski, Barbara Čandrlić, Pero Hrabač and Damir Miletić
Biomedicines 2025, 13(5), 1157; https://doi.org/10.3390/biomedicines13051157 - 9 May 2025
Viewed by 438
Abstract
Background: Crohn’s disease (CD) is a chronic inflammatory condition that can affect the gastrointestinal tract and cause significant extraintestinal manifestations. Diagnosing and monitoring disease activity, especially in pediatric patients, remains a challenge due to the variable clinical presentations and limitations of traditional imaging [...] Read more.
Background: Crohn’s disease (CD) is a chronic inflammatory condition that can affect the gastrointestinal tract and cause significant extraintestinal manifestations. Diagnosing and monitoring disease activity, especially in pediatric patients, remains a challenge due to the variable clinical presentations and limitations of traditional imaging methods. Objective: This study aimed to evaluate and compare the diagnostic accuracy and clinical utility of small bowel capsule endoscopy (SBCE) versus magnetic resonance enterography (MRE) for assessing disease activity and extent in pediatric Crohn’s disease using the Pediatric Crohn’s Disease Activity Index (PCDAI) and Simple Endoscopic Score for Crohn’s Disease (SES-CD) as reference standards. Methods: In this prospective study, 52 pediatric patients with newly diagnosed CD underwent upper and lower endoscopy, MRE, and SBCE. The SBCE images were analyzed using the Capsule Endoscopy Crohn’s Disease Activity Index (CECDAI), while the MRE images were scored using the Crohn’s Disease MRI Index (CDMI). Correlations of these findings with PCDAI and SES-CD were statistically analyzed. Results: CECDAI and CDMI demonstrated strong correlations with PCDAI (r = 0.517 and r = 0.525, respectively; p < 0.001). The correlations between CECDAI and SES-CD were less pronounced but significant. SBCE and MRE showed comparable efficacy in detecting small bowel lesions, with both methods offering valuable insights into the disease status. Conclusions: SBCE is a reliable, non-invasive tool for diagnosing and monitoring pediatric CD, comparable to MRE. While SBCE offers higher resolution for mucosal evaluation, it requires additional expertise for optimal interpretation. The adoption of SBCE alongside MRE could enhance diagnostic accuracy and early therapeutic interventions for pediatric CD. Full article
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20 pages, 10317 KiB  
Review
Paediatric Congenital Enteropathies: Clinical and Histological Review
by Francesca Arienzo, Isabella Giovannoni, Antonella Diamanti, Chiara Maria Trovato, Paola De Angelis, Chiara Imondi, Rita Alaggio and Paola Francalanci
Diagnostics 2025, 15(8), 946; https://doi.org/10.3390/diagnostics15080946 - 8 Apr 2025
Viewed by 755
Abstract
Paediatric congenital enteropathies (PCEs) are a group of rare inherited diseases with a typical early onset in life. Prompt identification and treatment are crucial to avoid potentially fatal consequences. This review aims to provide a paradigmatic framework for clinical and histological identification of [...] Read more.
Paediatric congenital enteropathies (PCEs) are a group of rare inherited diseases with a typical early onset in life. Prompt identification and treatment are crucial to avoid potentially fatal consequences. This review aims to provide a paradigmatic framework for clinical and histological identification of PCEs, with an emphasis on congenital conditions involving epithelial shape, trafficking and polarity, enteroendocrine function, immunomodulatory diseases, and extremely early onset inflammatory bowel illness. A proper classification is founded on histopathological characteristics and clinical parameters (such as consanguinity, anomalies in amniotic fluid, prenatal expression or early neonatal onset, stool appearance, persistence of symptoms despite fasting, and extra-intestinal manifestations, etc.). The increasing accessibility and convenience of genetic tests has also accelerated the identification of genes related to specific phenotypes of PCEs, improving the diagnostic and care pathway. As a “niche” pathology, PCEs are susceptible to misdiagnosis due to a limited awareness of these entities, and their identification requires extensive training and specialized facilities. The aim of our review is to emphasize the importance of an integrated approach, combining clinical, histological, and molecular analysis, to achieve a definitive diagnosis and guide the treatment. Full article
(This article belongs to the Special Issue Pediatric Gastrointestinal Pathology)
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17 pages, 453 KiB  
Article
Impact of Depression on Health-Related Quality of Life in Ulcerative Colitis Patients—Are We Doing Enough? A Single Tertiary Center Experience
by Dunja Jaksic, Sasa Vuksanovic, Aleksandar Toplicanin, Jelena Spiric-Milovancevic, Gorica Maric and Aleksandra Sokic-Milutinovic
Life 2025, 15(4), 612; https://doi.org/10.3390/life15040612 - 6 Apr 2025
Viewed by 661
Abstract
Ulcerative colitis (UC) significantly impacts patients’ health-related quality of life (HRQOL). This study aimed to evaluate HRQOL and the factors affecting it, and the prevalence of anxiety, depression and alexythimia in patients with UC. This cross-sectional study included 248 UC patients (21 with [...] Read more.
Ulcerative colitis (UC) significantly impacts patients’ health-related quality of life (HRQOL). This study aimed to evaluate HRQOL and the factors affecting it, and the prevalence of anxiety, depression and alexythimia in patients with UC. This cross-sectional study included 248 UC patients (21 with proctitis, 63 with left-sided UC and 164 with extensive colitis). Data were collected using standardized self-administered questionnaires [a socio-demographic questionnaire, General Anxiety Disorder-7 (GAD-7), the Patient Health Questionnaire-9 (PHQ-9), the Toronto Alexithymia Scale (TAS-20) and the Short Inflammatory Bowel Disease Questionnaire (SIBDQ)]. Clinical data on remission status, extraintestinal manifestations, comorbidities and the use of advanced therapies were also collected. Hierarchical regression analysis of variables predicting SIBDQ score was done. Clinical and laboratory remission was present in 95.6% of the patients. The prevalences of depression, anxiety and alexithymia were 44.7%, 34.3% and 30.2%, respectively. There were no differences in the PHQ-9, GAD-7 and TAS-20 scores in relation to remission status. The average SIBDQ score was 56.5. The patients in remission reported better SIBDQ scores compared to the symptomatic patients (p = 0.002). The hierarchical regression analysis showed that remission of disease and a higher depression score influenced HRQOL in the UC patients. The prevalence of depression, anxiety and alexithymia in the UC patients was high. Remission of disease and a high depression score were the main factors related to HRQOL. Full article
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20 pages, 5662 KiB  
Article
PTPN2 Regulates Iron Handling Protein Expression in Inflammatory Bowel Disease Patients and Prevents Iron Deficiency in Mice
by Hillmin Lei, Ali Shawki, Alina N. Santos, Vinicius Canale, Salomon Manz, Meli’sa S. Crawford, Pritha Chatterjee, Marianne R. Spalinger, Michael Scharl and Declan F. McCole
Int. J. Mol. Sci. 2025, 26(7), 3356; https://doi.org/10.3390/ijms26073356 - 3 Apr 2025
Cited by 1 | Viewed by 1526
Abstract
Anemia is the most common extraintestinal manifestation of inflammatory bowel disease (IBD). Iron deficiency is the most frequent cause of anemia in IBD; however, the mechanisms involved are still poorly understood. Here, we investigated the role of the IBD risk gene, protein tyrosine [...] Read more.
Anemia is the most common extraintestinal manifestation of inflammatory bowel disease (IBD). Iron deficiency is the most frequent cause of anemia in IBD; however, the mechanisms involved are still poorly understood. Here, we investigated the role of the IBD risk gene, protein tyrosine phosphatase non-receptor type 2 (PTPN2), in regulating iron homeostasis. Proteomic analyses were performed on serum from IBD patients genotyped for the IBD-associated loss-of-function rs1893217 PTPN2 variant. Constitutive Ptpn2 wild type (WT), heterozygous (Het), and knockout (KO) mice were analyzed for iron content, blood parameters, and expression of iron handling proteins. Iron absorption was assessed through radiotracer assays. Serum proteomic analyses revealed that the “iron homeostasis signaling pathway” was the main pathway downregulated in Crohn’s disease (CD) patients carrying the PTPN2 risk allele, independent of disease activity. Ptpn2-KO mice showed characteristics of anemia, including reduced hemoglobin concentrations along with serum and tissue iron deficiency and elevated serum hepcidin levels vs. Ptpn2-WT and Het mice. 55Fe absorption via oral gavage was significantly impaired in Ptpn2-KO mice. Correspondingly, Ptpn2-KO mice showed reduced apical membrane expression of the iron transporter DMT1. CD patients with the PTPN2 loss-of-function rs1893217 variant display alterations in serum iron handling proteins. Loss of Ptpn2 in mice caused features of anemia, including iron deficiency associated with reduced apical membrane expression of DMT1. These findings identify an important role for PTPN2 in regulating systemic iron homeostasis. Full article
(This article belongs to the Special Issue Inflammatory Bowel Disease: From Genetics to Treatment)
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17 pages, 3061 KiB  
Article
Probiotic Lactobacillus johnsonii Reduces Intestinal Inflammation and Rebalances Splenic Treg/Th17 Responses in Dextran Sulfate Sodium-Induced Colitis
by Hao-Yu Liu, Shicheng Li, Kennedy Jerry Ogamune, Peng Yuan, Xinyu Shi, Wael Ennab, Abdelkareem A. Ahmed, In Ho Kim, Ping Hu and Demin Cai
Antioxidants 2025, 14(4), 433; https://doi.org/10.3390/antiox14040433 - 3 Apr 2025
Cited by 1 | Viewed by 1244
Abstract
Inflammatory bowel disease (IBD), a chronic inflammatory disorder of the gastrointestinal tract, is frequently complicated by extraintestinal manifestations such as functional hyposplenism. Increasing evidence highlights its pathogenesis as a multifactorial interplay of gut dysbiosis, intestinal barrier dysfunction, and dysregulated immune responses. While probiotics, [...] Read more.
Inflammatory bowel disease (IBD), a chronic inflammatory disorder of the gastrointestinal tract, is frequently complicated by extraintestinal manifestations such as functional hyposplenism. Increasing evidence highlights its pathogenesis as a multifactorial interplay of gut dysbiosis, intestinal barrier dysfunction, and dysregulated immune responses. While probiotics, particularly Lactobacillus spp., have emerged as potential therapeutics for IBD, restoring intestinal homeostasis, their systemic immunomodulatory effects remain underexplored. Here, we investigated the protective role of Lactobacillus johnsonii N5 in DSS-induced colitis, focusing on inflammation inhibition and splenic T cell regulation. Pretreatment with L. johnsonii N5 significantly attenuated colitis severity, as evidenced by preserved body weight, reduced disease activity index, and prevention of colon shortening. N5 suppressed colonic pro-inflammatory factors such as TNF-α, Il-1b, Il-6, and CXCL1, while elevating anti-inflammatory IL-10 at both mRNA and protein levels. Transcriptomic analysis of the spleen revealed that N5 mediated the downregulation of inflammatory pathways, including the IL-17 and TNF signaling pathways, as well as the HIF-1 signaling pathway, and modulated the metabolic pathway of oxidative phosphorylation. Flow cytometry analysis demonstrated that N5 rebalanced splenic Treg/Th17 responses by expanding the Treg population and reducing the production of IL-17A in Th17 cells. Notably, Th17-associated IL-17A positively correlated with intestinal pro-inflammatory mediators, emphasizing the role of Th17 cells in driving colitis. In contrast, splenic Treg abundance positively correlated with colonic IL-10 levels, suggesting a link between systemic immune regulation and intestinal anti-inflammatory responses. Our study underscores the therapeutic potential of targeting gut–immune crosstalk through probiotics, thereby offering valuable insights for developing live bacterial-based interventions for IBD and other inflammatory disorders. Full article
(This article belongs to the Special Issue Interplay of Microbiome and Oxidative Stress)
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10 pages, 2545 KiB  
Case Report
Enterocutaneous Fistula in a Patient with Crohn’s Disease After Internalization of a Foreign Body into the Gastrointestinal Tract
by Wiktoria Hanna Buzun, Karolina Izabela Pełka, Aleksandra Złotowska, Justyna Łuczak, Dariusz Patkowski, Tomasz Pytrus and Anna Kofla-Dłubacz
J. Clin. Med. 2025, 14(7), 2327; https://doi.org/10.3390/jcm14072327 - 28 Mar 2025
Cited by 1 | Viewed by 779
Abstract
Background/Objectives: Crohn’s disease is a chronic inflammatory condition with periods of exacerbation and remission that can involve any part of the gastrointestinal tract. The basic intestinal manifestation is frequently accompanied by extraintestinal involvement and may lead to complications such as perforations, fistulas and [...] Read more.
Background/Objectives: Crohn’s disease is a chronic inflammatory condition with periods of exacerbation and remission that can involve any part of the gastrointestinal tract. The basic intestinal manifestation is frequently accompanied by extraintestinal involvement and may lead to complications such as perforations, fistulas and abscesses. Despite Crohn’s disease being the most common reason of intestinal perforation, the other causes should be considered as well. Internalization of a foreign body, although rare, may still occur, especially in the pediatric population. Methods: The following case report presents the medical history of an 11-year-old patient who developed an enterocutaneous fistula two years after the diagnosis of Crohn’s disease. Data analysis was carried out on the basis of patient medical records. Results: The fistula formed in the course of biological treatment during a period free of other symptoms indicating disease exacerbation. The imaging tests revealed the presence of a foreign body in the gastrointestinal tract, which could have been a potential cause of the observed inflammation that resulted in the development of the fistula. Conclusions: The presented case report as well as the literature indicate a correlation between the formation of intestinal fistulas and an active disease process. However, in the absence of symptoms of Crohn’s disease exacerbation, other causes should be considered. Full article
(This article belongs to the Section Gastroenterology & Hepatopancreatobiliary Medicine)
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